Table 3 Mutations in the established cell lines by NCC Oncopanel
Cell lines | Gene | Alterations | Protein effect | Database | |
|---|---|---|---|---|---|
COSMIC ID | ClinVar ID | ||||
NCC-MPNST1-C1 | CDKN2A | Homozygous deletion | No expression | – | – |
TP53 | Homozygous deletion | No expression | – | – | |
TSC1 | Homozygous deletion | No expression | – | – | |
BRCA2 | NM_000059.3:c.5614A>T | p.K1872* | Not available | RCV000031560 | |
NCC-MPNST2-C1 | NF1 | NM_001042492.2:c.536_539del | p.L179Yfs*11 | Not available | Not available |
NCC-MPNST3-C1 | CDKN2A | Homozygous deletion | No expression | – | – |
MTOR | Homozygous deletion | No expression | – | – | |
PIK3CA | NM_006218.4:c.1624G>A | p.E542K | COSM760 | RCV000024622 | |
NF1 | NM_001042492.2:c.2446C>T | p.R816* | COSM24444 | Not available | |
NCC-MPNST3-X2-C1 | CDKN2A | Homozygous deletion | No expression | – | – |
PIK3CA | NM_006218.4:c.1624G>A | p.E542K | COSM760 | RCV000024622 | |
NF1 | NM_001042492.2:c.2446C>T | p.R816* | COSM24444 | Not available | |
TP53 | NM_001126115.1:c.9C>G | p.C3W | COSM44219 | Not available | |
NCC-MPNST4-C1 | CDKN2A | Homozygous deletion | No expression | – | – |
KDM6A | Homozygous deletion | No expression | – | – | |
ARAF | Homozygous deletion | No expression | – | – | |
TP53 | NM_001126112.2:c.745A>G | p.R249G | COSM10668 | Not available | |
NF1 | NM_001042492.2:c.5812 + 3delAGTA | Splice site | Not available | Not available | |
NCC-MPNST5-C1 | CDKN2A | Homozygous deletion | No expression | – | – |
NF1 | NM_001042492.2:c.1756_1759del | T586Vfs*18 | COSM6853566 | Not available | |