Tuesday, 27 June 2017

Brain tumours

Brain tumours

Table I : cell lines with wt p53
Cell line
ATCC
Origin
Reference
CHP-134*
Neuroblastoma
KG-1-C
Neuroblastoma
1006
GOTO
Neuroblastoma
1006
IMR-32*
CCL-127
Neuroblastoma
LAN-5*
Neuroblastoma
NB-1
Neuroblastoma
1006
NH-12
Neuroblastoma
1006
NH-6
Neuroblastoma
1006
SK-N-AS*
CRL-2137
Neuroblastoma
SH-SY5Y
Neuroblastoma
SK-N-SH*,**
HTB-11
Neuroblastoma
U-87-MG
HTB-14
Glioblastoma
2249
GM2300
Glioblastoma
1950
GM1578
Glioblastoma
1950
GM2455
Glioblastoma
1950
GM1600
Glioblastoma
1950
GM1592
Glioblastoma
1950
GM139
Glioblastoma
1950
GM2401
Glioblastoma
1950
SK-MG-11
Glioblastoma
698
SK-MG-15
Glioblastoma
698
V-MG-33
Glioblastoma
698
* Cytoplasmic p53
** a recent publication describes an abberant splice in this cell line leading to the expression of a 369 aa protein that lack the NLS (Nakamura Y, Ozaki T, Niizuma H, Ohira M, Kamijo T, Nakagawara A (2007) Functional characterization of a new p53 mutant generated by homozygous deletion in a neuroblastoma cell line. Biochem Biophys Res Commun 354: 892-898.)
Table II : cell lines with p53 gene deletion or rearrangement
Cell line
ATCC
Origin
Reference
LN-Z308
Glioblastoma
Table III : cell lines with p53 splice mutation
(exonic mutations that modify splice are listed in table IV)
No data available
Table IV: cell lines with p53 mutations (missense or frameshift)
More information is available in the handbook
Pos: Codon position (1 to 393);
WT: Normal base sequence of the codon in which the mutation occurred;
Mut Sequence of the mutated codon. If the mutation is a deletion or an insertion, it is indicated by "del" or "ins" followed by the number of deleted or inserted bases. The position in the codon is indicated by “a”, “b”, or “c” for the first, second or third base of the codon respectively. Example: "del66b" is a deletion of 66 bases including the second base of the codon; "ins4a" is an insertion of 4 bases occurring between the first and the second base of the codon. Label a, b, or c is omitted if the boundary of the deletion or insertion is unknown
AA: Wild type amino acid;
Mut: Mutant amino acid. Stop: nonsense mutation: Fs.: Frameshift mutation: InF: In-frame insertion or deletion;
Comp: complexity of the mutation: SM: Single mutational event in the tumor; DMU (Double Mutation Unknown): Two p53 mutations in the same tumor but their allelique distribution is unknown; DMD (Double Mutation Different allele): Two p53 mutations in the same tumor on two different p53 alleles; DMS (Double Mutation Same allele): Two p53 mutations in the same tumor on the same p53 allele: MM (Multiple Mutation): More than two p53 mutations in the same tumor;
NB: Number of tumors with this particular mutant in the database;
Ref: reference number;
Comments: information;
Table of references (available also in the handbook)
Astrocytoma
Pos.
WT
Mut
      AA
Mut
Comp
Name
NB
Ref
Comments
115
CAT
TAT
His
Tyr
SM
440
2
491
Single report
55
ACT
ins1c
Thr
Fs.
SM
622
1
491
Single report
273
CGT
TGT
Arg
Cys
SM
8-MG-BA
687
2249
Mutation in COSMIC database
273
CGT
CAT
Arg
His
SM
B2-17
780
2249
Mutation in COSMIC database
248
CGG
TGG
Arg
Trp
SM
CAS-1
728
2249
Mutation in COSMIC database
248
CGG
TGG
Arg
Trp
SM
D-336MG
728
2249
Mutation in COSMIC database
245
GGC
AGC
Gly
Ser
SM
D-423MG
440
2249
Mutation in COSMIC database
245
GGC
AGC
Gly
Ser
SM
D-566MG
440
2249
Mutation in COSMIC database
239
AAC
ins3b
Asn
InF
SM
GB-1
1
2249
Mutation in COSMIC database
236
TAC
TGC
Tyr
Cys
SM
GMS-10
75
2249
Mutation in COSMIC database
245
GGC
AGC
Gly
Ser
DMU
KINGS-1
440
2249
Mutation in COSMIC database
248
CGG
CAG
Arg
Gln
DMU
KINGS-1
883
2249
Mutation in COSMIC database
175
CGC
CAC
Arg
His
SM
LN-319
1187
277
Single report
282
CGG
TGG
Arg
Trp
SM
LN-405
600
2249
Mutation in COSMIC database
110
CGT
CCT
Arg
Pro
SM
MOG-G-CCM
11
2249
Mutation in COSMIC database
159
GCC
GTC
Ala
Val
SM
MOG-G-UVW
50
2249
Mutation in COSMIC database
245
GGC
AGC
Gly
Ser
SM
no-10
440
2249
Mutation in COSMIC database
273
CGT
TGT
Arg
Cys
SM
no-11
687
2249
Mutation in COSMIC database
273
CGT
TGT
Arg
Cys
SM
SW1088
687
2249
Mutation in COSMIC database
273
CGT
TAT
Arg
Tyr
SM
SW1783
3
2249
Mutation in COSMIC database
238
TGT
GGT
Cys
Gly
SM
TM-31
10
1760
Single report
Glioblastoma
Pos.
WT
Mut
      AA
Mut
Comp
Name
NB
Ref
Comments
273
CGT
TGT
Arg
Cys
SM
SJ-G2
687
1190
Single report
88
GCC
del1b
Ala
Fs.
SM
SJ-G3
1
1190
Single report
248
CGG
CAG
Arg
Gln
SM
SJ-G5
883
1190
Single report
242
TGC
TTC
Cys
Phe
SM
A-172
88
1397
wt in another publication
175
CGC
CAC
Arg
His
SM
A-7
1187
474
Single report
132
AAG
ATG
Lys
Met
SM
D456
9
472
Single report
195
ATC
ACC
Ile
Thr
SM
G-1163GM
90
2106
Single report
267
CGG
TGG
Arg
Trp
SM
G-1187GM
37
2106
Single report
248
CGG
TGG
Arg
Trp
SM
G123
728
370
Single report
105
GGC
AGC
Gly
Ser
SM
G-1265GM
1
2106
Single report
151
CCC
TCC
Pro
Ser
SM
G-1301M
92
2106
Single report
176
TGC
TAC
Cys
Tyr
SM
G-210GM
88
2106
Single report
179
CAT
GAT
His
Asp
SM
G-211GM
19
2106
Single report
249
AGG
ATG
Arg
Met
SM
G-599GM
64
2106
Single report
175
CGC
CAC
Arg
His
SM
G-750GM
1187
2106
Single report
175
CGC
CAC
Arg
His
SM
GM133
1187
1950
Single report
76
GCA
GGA
Ala
Gly
DMU
GM1596
9
1950
Single report
220
TAT
CAT
Tyr
His
DMU
GM1596
15
1950
Single report
163
TAC
TCC
Tyr
Ser
SM
GM2217
5
1950
Single report
248
CGG
TGG
Arg
Trp
SM
GM2313
728
1950
Single report
76
GCA
GGA
Ala
Gly
DMU
GM2328
9
1950
Single report
161
GCC
TCC
Ala
Ser
DMU
GM2328
5
1950
Single report
175
CGC
CAC
Arg
His
SM
GM2345
1187
1950
Single report
282
CGG
TGG
Arg
Trp
SM
GM2493
600
1950
Single report
237
ATG
ATA
Met
Ile
SM
GM47.23
123
987
Single report
175
CGC
CAC
Arg
His
SM
GM97
1187
1950
Single report
249
AGG
AGT
Arg
Ser
SM
GT9
389
1066
Single report
250
CCC
GCC
Pro
Ala
SM
GT9
14
1066
Single report
242
TGC
TTC
Cys
Phe
SM
LG
88
1397
Single report
238
TGT
TCT
Cys
Ser
SM
LN-18
10
277
Single report
164
AAG
GAG
Lys
Glu
SM
LN-229
25
277
Single report
197
GTG
CTG
Val
Leu
SM
LN382
2
2254
Single report
173
GTG
ATG
Val
Met
DMU
LN-428
77
277
Single report
282
CGG
TGG
Arg
Trp
DMU
LN-428
600
277
Single report
273
CGT
TGT
Arg
Cys
SM
SK-D1
687
698
Single report
173
GTG
CTG
Val
Leu
SM
SK-MG-16
23
698
Single report
255
ATC
ATT
Ile
Ile
SM
SK-MG-21
5
698
Single report
255
ATC
ATG
Ile
Met
SM
SK-MG-8
3
698
Single report
273
CGT
CAT
Arg
His
SM
SNB19
780
632
Confirmed in three other publications
237
ATG
ATA
Met
Ile
SM
T98G
123
277
Confirmed in two other publications. wt in COSMIC
213
CGA
CAA
Arg
Gln
SM
U118-MG
38
472
wt in COSMIC
232
ATC
ACC
Ile
Thr
DMU
U-138MG
15
1397
Single report
242
TGC
TTC
Cys
Phe
DMU
U-138MG
88
1397
Single report
273
CGT
CAT
Arg
His
SM
U251MG
780
2254
Single report
273
CGT
TGT
Arg
Cys
SM
V-MG-35/CE
687
698
Single report
218
GTG
GCG
Val
Ala
SM
V-MG-6
6
698
Single report
245
GGC
AGC
Gly
Ser
SM
D-542MG
440
2249
Mutation in COSMIC database
265
CTG
CCG
Leu
Pro
SM
GAMG
23
2249
Mutation in COSMIC database
241
TCC
TTC
Ser
Phe
SM
KALS-1
101
2249
Mutation in COSMIC database
342
CGA
TGA
Arg
Stop
SM
KNS-42
74
2249
Mutation in COSMIC database
286
GAA
AAA
Glu
Lys
SM
MO59J
86
1471
Single report
286
GAA
AAA
Glu
Lys
SM
MO59K
86
1471
Single report
266
GGA
GAA
Gly
Glu
SM
SF188
74
664
Single report
176
TGC
TAC
Cys
Tyr
SM
SF210
88
664
Single report
273
CGT
CAT
Arg
His
SM
SF268
780
664
Single report
248
CGG
CAG
Arg
Gln
SM
SF295
883
1018
Confirmed in COSMIC database
342
CGA
del1a
Arg
Fs.
SM
SF-539
5
2249
Controversy with other publications
258
GAA
AAA
Glu
Lys
SM
SNB75
73
1018
Confirmed in COSMIC database
275
TGT
TAT
Cys
Tyr
SM
GI-1
87
2249
Mutation in COSMIC database
Neuroblastoma
Pos.
WT
Mut
      AA
Mut
Comp
Name
NB
Ref
Comments
113
TTC
TCC
Phe
Ser
SM
ACN
3
2249
Mutation in COSMIC database
342
CGA
CTA
Arg
Leu
SM
CHLA-119
1
1774
Single report
286
GAA
AAA
Glu
Lys
SM
CHLA-172
86
1774
Single report
286
GAA
AAA
Glu
Lys
SM
CHLA-90
86
1774
Single report
182
TGC
TGA
Cys
Stop
SM
LAN1
6
93
Single report
173
GTG
ATG
Val
Met
SM
NB13
77
2249
Mutation in COSMIC database
175
CGC
CAC
Arg
His
SM
NB16
1187
2249
Mutation in COSMIC database
177
CCC
ACC
Pro
Thr
SM
NB19
1
2249
Mutation in COSMIC database
176
TGC
TTC
Cys
Phe
SM
NB-SD
191
1190
Single report
245
GGC
AGC
Gly
Ser
SM
NMB
440
1772
Single report
176
TGC
TTC
Cys
Phe
SM
SJNB-4
191
1772
Single report
135
TGC
TTC
Cys
Phe
SM
SK-N-BE(2)
52
1772
Single report
110
CGT
CTT
Arg
Leu
SM
SK-N-DZ
28
2249
Mutation in COSMIC database
246
ATG
AGG
Met
Arg
SM
SK-N-FI
13
2249
Mutation in COSMIC database
282
CGG
del3a
Arg
InF
SM
TGW
1
2096
Single report
233
CAC
ins4b
His
Fs.
SM
CHP-100
1
93
Single report
PNET
Pos.
WT
Mut
      AA
Mut
Comp
Name
NB
Ref
Comments
273
CGT
CAT
Arg
His
SM
HS-Sch-2
780
2078
Single report

Bladder carcinoma

Bladder carcinoma


Table I : cell lines with wt p53
Cell lineATCCReference
BC16 729
HU456 729
HT1197* 729
KK47 729
RT4 561
PSI* 729
RT112 729
TCCSUP 729
UCRU-BL13  
UCRU-BL-28  
MGH-U  
UM-UC2  
UM-UC11  
UM-UC6  
mdm2 overexpression
Table II : cell lines with p53 gene deletion or rearrangement
No data
Table III : cell lines with p53 splice mutation
(exonic mutations that modify splice are listed in table IV)
No data
Table IV: cell lines with p53 mutations (missense or frameshift)
More information is available in the handbook
Pos: Codon position (1 to 393);
WT: Normal base sequence of the codon in which the mutation occurred;
Mut Sequence of the mutated codon. If the mutation is a deletion or an insertion, it is indicated by "del" or "ins" followed by the number of deleted or inserted bases. The position in the codon is indicated by “a”, “b”, or “c” for the first, second or third base of the codon respectively. Example: "del66b" is a deletion of 66 bases including the second base of the codon; "ins4a" is an insertion of 4 bases occurring between the first and the second base of the codon. Label a, b, or c is omitted if the boundary of the deletion or insertion is unknown
AA: Wild type amino acid;
Mut: Mutant amino acid. Stop: nonsense mutation: Fs.: Frameshift mutation: InF: In-frame insertion or deletion;
Comp: complexity of the mutation: SM: Single mutational event in the tumor; DMU (Double Mutation Unknown): Two p53 mutations in the same tumor but their allelique distribution is unknown; DMD (Double Mutation Different allele): Two p53 mutations in the same tumor on two different p53 alleles; DMS (Double Mutation Same allele): Two p53 mutations in the same tumor on the same p53 allele: MM (Multiple Mutation): More than two p53 mutations in the same tumor;
NB: Number of tumors with this particular mutant in the database;
Ref: reference number;
Comments: information;
Table of references (available also in the handbook)
Pos.
WT
Mut
      AA
Mut
Comp
Name
NB
Ref
Comments
280
AGA
ACA
Arg
Thr
SM
5637
92
561
Confirmed in three other publications
248
CGG
CAG
Arg
Gln
SM
639-V
883
689
Single report
162
ATC
AAC
Ile
Asn
DMU
647-V
4
2249
Mutation in COSMIC database
336
GAG
TAG
Glu
Stop
DMU
647-V
5
2249
Mutation in COSMIC database
241
TCC
TGC
Ser
Cys
SM
BFTC-909
36
564
wt in COSMIC
280
AGA
ACA
Arg
Thr
SM
BL-17
92
859
Single report
126
TAC
TAG
Tyr
Stop
SM
BT-1
14
689
Single report
241
TCC
TTC
Ser
Phe
SM
CUBIII
101
729
Single report
158
CGC
CAC
Arg
His
SM
DSH1
105
2249
Mutation in COSMIC database
126
TAC
TAG
Tyr
Stop
SM
EJ
14
689
Controversy with other publications
164
AAG
GAG
Lys
Glu
SM
EJ
25
729
Controversy with other publications
76
GCA
del76
Ala
Fs.
SM
FHS 738B1
1
561
Single report
365
CAC
CGC
His
Arg
SM
HT-1197
1
561
wt in COSMIC
250
CCC
CTC
Pro
Leu
SM
HT-1376
53
561
Confirmed in two other publications
261
AGT
del137
Ser
Fs.
DMU
J82
1
2249
Controversy with other publications Deletion of exon 8
271
GAG
AAG
Glu
Lys
MM
J82
38
561
Controversy with other publications undocumented 4th mutation (deletion 210 bp)
271
GAG
AAG
Glu
Lys
MM
J82
38
729
Controversy with other publications
274
GTT
TTT
Val
Phe
MM
J82
32
561
Controversy with other publications undocumented 4th mutation (deletion 210 bp)
274
GTT
TTT
Val
Phe
MM
J82
32
729
Controversy with other publications
320
AAG
AAC
Lys
Asn
MM
J82
5
561
Controversy with other publications undocumented 4th mutation (deletion 210 bp)
320
AAG
AAC
Lys
Asn
DMU
J82
5
2249
Controversy with other publications
320
AAG
AAC
Lys
Asn
MM
J82
5
729
Controversy with other publications
241
TCC
TAC
Ser
Tyr
SM
LB831-BLC
19
2249
Mutation in COSMIC database
213
CGA
TGA
Arg
Stop
SM
LD137
306
1163
Single report
219
CCC
del1a
Pro
Fs.
SM
LD600
10
1163
Single report
36
CCG
CCA
Pro
Pro
SM
LD605
5
1163
Single report
245
GGC
GAC
Gly
Asp
SM
LD627
171
1163
Single report
280
AGA
AAA
Arg
Lys
SM
LD630
78
1163
Single report
248
CGG
CAG
Arg
Gln
SM
LD660
883
1163
Single report
248
CGG
CAG
Arg
Gln
SM
LD692
883
1163
Single report
158
CGC
CTC
Arg
Leu
SM
LD700
92
1163
Single report
183
TCA
TGA
Ser
Stop
DMU
RT-112
29
2249
Controversy with other publications
248
CGG
CAG
Arg
Gln
SM
RT-112
883
1733
Controversy with other publications
248
CGG
CAG
Arg
Gln
DMU
RT-112
883
2249
Controversy with other publications
110
CGT
CTT
Arg
Leu
SM
SCaBER
28
294
Confirmed in another publication
110
CGT
CTT
Arg
Leu
SM
SD
28
294
Controversy with other publications
116
TCT
TGT
Ser
Cys
SM
SD
3
689
Controversy with other publications
273
CGT
TGT
Arg
Cys
SM
SW1710
687
689
Single report
126
TAC
TAG
Tyr
Stop
SM
T-24
14
689
Controversy with other publications
126
TAC
del3a
Tyr
InF
SM
T-24
1
561
Controversy with other publications
349
GAA
TAA
Glu
Stop
SM
TCCSUP
7
561
Single report
113
TTC
TGC
Phe
Cys
SM
UM-UC-3
9
294
Confirmed in two other publications
126
TAC
TAG
Tyr
Stop
DMU
VM-CUB-1
14
2249
Controversy with other publications
175
CGC
CAC
Arg
His
SM
VM-CUB-1
1187
689
Controversy with other publications
175
CGC
CAC
Arg
His
DMU
VM-CUB-1
1187
2249
Controversy with other publications
158
CGC
CTC
Arg
Leu
DMU
VM-CUB-2
92
689
Controversy with other publications
158
CGC
CTC
Arg
Leu
SM
VM-CUB-2
92
294
Controversy with other publications
163
TAC
TGC
Tyr
Cys
DMU
VM-CUB-2
140
689
Controversy with other publications
278
CCT
CTT
Pro
Leu
SM
VM-CUB-3
84
689
Single report

 

THE NCI-60 PANEL

THE NCI-60 PANEL

Cell lines with an inconclusive p53 status are shown in red.
more information can be found here: Berglind et al., in press: download the manuscript
Cell line
ATCC number
DNA
Protein
ref
consensus
comment
LYMPHOMA LEUKEMIA
CCRF-CEMCCL-119 R248Q1018
R175H+R248Q
Two mutations in separate alleles
c.524G>A, c.743G>AR175H+R248Q3
c.524G>A, c.743G>AR175H+R248Q2249
HL-60CCL-240 R248L1018
p53 null
 
nullp.M1_*394del3000
nullp.M1_*394del2249
K-562CCL-243c.406_407insCp.Q136fs*13269
p.Q136fs*13
p53 RNA and protein are undetectable in this cell line
c.406_407insCp.Q136fs*132249
MOLT-4CRL-1582wt 3
Inconclusive
The status of MOLT-4 is highly heterogeneous in the literature. The report of a wt status could be due to the fact that only exons 5 to 8 (residues 126-306) were screened in several publications
wt 1018
c.331C>GL111V2242
c.743G>AR248Q27
c.916C>TR306X2249
RPMI-8226CCL-155 R285L1018
E285K
This mutant is temperature-sensitive
c.853G>AE285K2249
c.853G>AE285K98
SRCRL-2262wt 1018
wt
 
wt 2249
NSCLC
A549CCL-185wt 1018
wt
 
wt 16
wt 2249
EKVX del187-224 (exon 6) 1018
Inconclusive
Possible splicing defect. See below for more information
c.609_610GG>TTp.V203_E204>V2249
HOP-62  Ins 212-2251018
See below for more explanation
c.673-2A>G  (splice junction)p.?2249
HOP-92  p.R175L1018
R175L
 
c.524G>Tp.R175L2249
NCI-H226CRL-5826 P309A1018
Inconclusive
 
c.473G>TR158L92
 wt2249
NCI-H23CRL-5800c.738G>CR246I17
R246I
 
 R246I1018
c.738G>CR246I2249
NCI-H322M c.743G>TR248L92
R248L
 
 R248L1018
c.743G>TR248L2249
NCI-H460HTB-177wt 1018
wt
 
wt 2249
NCI-H522CRL-5810 191delG1018
p.P191fs*57
 
c.572_572delCp.P191fs*572249
c.572_572delCp.P191fs*5892
COLON
COLO-205CCL-222 G266E1018
Inconclusive
 
c.308_333>TAp.Y103_L111>L492
c.308_333>TA103del272249
HCC-2998  R213X1018
R213X
 
c.637C>TR213X2249
HCT-116CCL-247wt 1018
wt
 
wt 2249
HCT-15CCL-225c.722C>T, c.1101-2A>C  (splice junction)p.S241F, p.?2249
Inconclusive
 
 P153A1018
c.722C>TS241F2251
HT-29HTB-38c.818G>AR273H492
R273H
 
c.818G>AR273H2249
KM12  H179R1018
Inconclusive
 
c.215delGp.R72fs*512249
SW620CCL-227c.818G>A, c.925C>TR273H, P309S9
R273H + P309S
SW480 and SW620 are derived from the same individual with a similar p53 alteration. The P309S mutation is not always reported
 R273H1018
c.818G>A, c.925C>TR273H, P309S2249
CENTRAL NERVOUS SYSTEN
SF268 c.818G>AR273H664
R273H
 
 R273H1018
c.818G>AR273H2249
SF295  p.R248Q1018
R248Q
 
c.743G>Ap.R248Q2249
SF539 wt 1018
Inconclusive
 
c.1024delCp.R342fs*32249
SNB75  E258K1018
E258K
 
c.772G>AE258K2249
U251/SNB19 c.818G>AR273H632
R273H
 
 R273H1018
c.818G>AR273H2249
MELANOMA
LOXIMV1 wt 1018
wt
 
wt 2249
Malme-3MHTB-64wt 1018
wt
 
wt 2249
M14  G266E1018
G266E
 
c.797G>AG266E2249
SK-MEL-2HTB-68 G245S1018
G245S
 
c.733G>AG245S2249
SK-MEL-28HTB-72c.434_435TG>GTL145R2249
L145R
 
c.434T>GL145R1570
 C145V1018
SK-MEL-5HTB-70wt 1018
wt
 
wt 2249
UACC-257 wt 1018
wt
 
wt 2249
UACC-62 wt 1018
wt
 
  2249
MDA-MB-435  G266E1018
G266E
This cell line was originally reported as a breast carcinoma cell line but recent SNP analysis indicates that it is similar to the M14 melanoma cell line
c.797G>AG266E2029
c.797G>AG266E2249
MDA-N  G266E1018
G266E
This cell line was originally reported as a breast carcinoma cell line but recent SNP analysis indicates that it is similar to the M14 melanoma cell line.  It is a derivative of MDA-MB-435 tranfected with a plasmid expressing erbB2
OVARY
IGROV1 wt 1018
Inconclusive
 
wt 606
c.377A>GY126C2249
OVCAR-3HTB-161c.743G>AR248Q144
R248Q
 
 R248Q1018
c.743G>AR248Q2249
OVCAR-4 wt 1018
Inconclusive
 
c.388C>GL130V2249
OVCAR-5  ins2241018
Inconclusive
 
wt 2249
OVCAR-8 c.376-1G>A 2249
Splicing defect
See below for more explanation
 del 126-1321018
NCI/ADR-RES c.376-1G>A 2249
Splicing defect
Originally named MCF-7/AdrR cells,  later re-designated NCI/ADR-RES.  Was recently found to be identical to OVCAR-8
 del 126-1321018
 126del21983
SK-OV-3HTB-77 H179R1018
Inconclusive
p53 RNA and protein are undetectable in this cell line: see below for more explanation
c.267delCp.S90fs*332249
RENAL
786-0CRL-1932 P278A1018
Inconclusive
 
c.832C>G, c.560-2A>G  (splice junction)p.P278A, p.?2249
A498HTB-44wt 1018
wt
 
wt 2249
ACHNCRL-1611wt 1018
wt
 
wt 2249
CAKI-1HTB-46wt 1018
wt
 
wt 2249
RXF393  R175H1018
R175H
 
c.524G>AR175H2249
SN12C  E336X1018
E336X
 
c.1006G>TE336X2249
TK10  L264R1018
L264R
 
c.791T>GL264R2249
U031 wt 1018
wt
 
wt 2249
PROSTATE
DU-145HTB-81 P223L1018
P223L + V274F
See below for more explanation
c.820G>TV274F2249
c.668C>T + c.820G>TP223L + V274F3001
c.668C>T + c.820G>TP223L + V274F59
PC-3CRL-1435c.414delCp.K139fs*312249
p53 RNA and protein are undetectable in this cell line
 
 138del1018
c.414delC138del59
BREAST
BT-549HTB-122c.747G>CR249S24
R249S
 
 R249S1018
c.747G>CR249S2249
Hs 578THTB-126c.469G>TV157F76
V157F
 
c.469G>TV157F2249
 D157E1018
MCF7HTB-22wt 1018
wt
 
wt 249
MDA-MB-231HTB-26c.839G>AR280K24
R280K
 
 R280K1018
T47DHTB-133c.580C>TL194F9
L194F
 
c.580C>TL194F1018
In EKVX, the deletion of codon 187 to 224 detected on RNA-based analysis (ref 1018) corresponds exactly to the deletion of the entire exon 6, a strong argument for a splicing defect. Genomic analysis did not reveal a splicing defect but a tandem mutation at codons 203 and 204 in exon 6 (ref 2049). If the two cell lines analysed were really EKVX, this result suggests that a mutation at either codon 203 and/or 204 could affect p53 gene splicing
In OVCAR-8, the 126-132 deletion detected by the RNA-based assay (ref 1018) concerns the first six residues of exon 5. Genomic analysis (ref 2049) described a mutation in the acceptor site of exon 5 and a splicing defect leading to a shift of the normal donor site of exon 5 that skips 18 nucleotides (6 aa residues) in exon 5. Examination of the DNA sequence at codon 132 reveals an AG dinucleotide sequence preceded by a pyrimidine tract similar to those found in the splice donor sequence. The same situation is observed for NCI/ADR- RES that has been recently shown to be an ovarian carcinoma cell line originating from the same patient as OVCAR-8.
In HOP-62, RNA-based analysis (ref 1018) detected an insertion between codon 212-225 but no information about the insertion sequence was available. Codon 225 is at the boundary of exon 6 and intron 6 suggesting a splicing defect, as analysis at the genomic level (ref 2049) confirms the presence of a splice mutation in the acceptor signal of exon 6
In the majority of publications, the p53 status of the SK-OV-3 cell line is stated as “p53 null”. In fact, close examination of the original manuscript shows that the p53 gene in SK-OV-3 is not deleted and did not sustain any gross rearrangement but neither p53 RNA or protein are found. In these publications, no p53 mutations were found but the recent analysis performed at the Sanger Institute detected a deletion of a single nucleotide at position 267 (codon 90) (Ikediobi et al., 2006). It is therefore possible that nonsense-mediated mRNA decay (NMD) eliminates p53 aberrant mRNA. NMD has been observed in the human leukaemia cell line K562 where p53 is also inactivated via a 1 base pair insertion at nucleotide 136