Table 5. Known variants in paediatric cancer cell lines were compared against capture sequencing from the Cancer Cell Line Encyclopaedia and other published data.
Cell line ID | Gene | Alteration | Detected | Allele frequency expected | Allele frequency observed |
---|---|---|---|---|---|
Be(2)C | TP53 | p.C135F | YES | no data available | 100% |
Be(2)C | MYCN | AMPLIFICATION | YES | not applicable | not applicable |
CCA | KRAS | p.Q61L | YES | no data available | 29% |
IMR32 | ATM | p.V2716A | YES | 59% | 59% |
IMR32 | MYCN | AMPLIFICATION | YES | not applicable | not applicable |
KELLY | ALK | p.F1174L | YES | 39% | 32% |
KELLY | MAP2K1 | p.A390T | YES | 48% | 47% |
KELLY | TP53 | p.P177T | YES | 93% | 99% |
KELLY | MYCN | AMPLIFICATION | YES | not applicable | not applicable |
LAN1 | ALK | p.F1174L | YES | no data available | 47% |
LAN1 | TP53 | p.C182* | YES | no data available | 99% |
LAN1 | MYCN | AMPLIFICATION | YES | not applicable | not applicable |
LAN5 | ALK | p.R1275Q | YES | no data available | 50% |
LAN5 | MYCN | AMPLIFICATION | YES | not applicable | not applicable |
NBLS | NF1 | splice_acceptor_variant c.6705-1G>T | YES | no data available | 42% |
RD | ATM† | p.D273N | YES | 17% | 2% |
RD | NF1 | p.E977* | YES | 56% | 59% |
RD | NRAS | p.Q61H | YES | 68% | 61% |
RD | TP53 | p.R248W | YES | 100% | 100% |
RH30 | CDK4 | AMPLIFICATION | YES | not applicable | not applicable |
RH41 | APC | p.M526L | YES | 60% | 59% |
RH41 | TP53 | p.P152fs | YES | 100% | 100% |
RMS559 | FGFR4 | p.V582L | YES | no data available | 76% |
SKNAS | NRAS | p.Q61L | YES | 45% | 46% |
SKNAS | RB1 | p.L477P | YES | 47% | 31% |
SKNAS | TP53 | DEL exons 10,11 | YES | not applicable | not applicable |
SKNSH | NRAS | p.Q61L | YES | 15% | 23% |
SKNSH | SMARCA4 | p.R973T | YES | 32% | 45% |
SKNSH | CHEK2 | p.T410fs | YES | 59% | 44% |
SKNSH | ALK | p.F1174L | YES | no data available | 36% |
†ATM mutation in this cell line is subclonal and variation in AF is expected with on-going passages.