ID   A375-R1
AC   CVCL_A2CR
DR   cancercelllines; CVCL_A2CR
DR   Cosmic; 2755761
DR   Wikidata; Q105506027
RX   PubMed=29605720;
CC   Population: Caucasian.
CC   Selected for resistance to: ChEBI; CHEBI_63637; Vemurafenib (Zelboraf; PLX4032).
CC   Sequence variation: Mutation; HGNC; HGNC:25657; BCORL1; Simple; p.Gln1076His (c.3228G>T); Zygosity=Heterozygous; Note=Acquired during resistance selection process (PubMed=29605720).
CC   Sequence variation: Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val47_Asp380del (c.139_1140del1002); Zygosity=Heterozygous; Note=Acquired during resistance selection process (PubMed=29605720).
CC   Sequence variation: Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Heterozygous (PubMed=29605720).
CC   Sequence variation: Mutation; HGNC; HGNC:1787; CDKN2A; Simple; p.Glu61Ter (c.181G>T) (p.Gly75Val, c.224G>T); ClinVar=VCV000376309; Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:1787; CDKN2A; Simple; p.Glu69Ter (c.205G>T) (p.Gly83Val, c.248G>T); ClinVar=VCV000376308; Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:11730; TERT; Simple; c.1-146C>T (c.250C>T) (C250T); Zygosity=Unspecified; Note=In promoter (from parent cell line).
CC   Derived from site: In situ; Leg, skin; UBERON=UBERON_0001511.
DI   NCIt; C3802; Amelanotic melanoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_0132 ! A-375
SX   Female
AG   54Y
CA   Cancer cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 8
//
RX   PubMed=29605720; DOI=10.1016/j.neo.2018.02.009; PMCID=PMC5915992;
RA   Mologni L., Costanza M., Sharma G.G., Viltadi M., Massimino L.,
RA   Citterio S., Purgante S., Raman H., Pirola A., Zucchetti M.,
RA   Piazza R., Gambacorti-Passerini C.;
RT   "Concomitant BCORL1 and BRAF mutations in vemurafenib-resistant
RT   melanoma cells.";
RL   Neoplasia 20:467-477(2018).
//