ID   Ma-Mel-134
AC   CVCL_A148
SY   MaMel134
DR   cancercelllines; CVCL_A148
DR   Cosmic; 1467792
DR   Cosmic; 1846593
DR   Cosmic; 2686369
DR   GEO; GSM437043
DR   IGRhCellID; MaMel134
DR   Progenetix; CVCL_A148
DR   Wikidata; Q54903759
RX   PubMed=20544847;
RX   PubMed=23348503;
CC   Sequence variation: Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Heterozygous (PubMed=20544847).
CC   Sequence variation: Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Unspecified (PubMed=23348503).
CC   Sequence variation: Mutation; HGNC; HGNC:9588; PTEN; Simple; p.Leu108Pro (c.323T>C); ClinVar=VCV000418436; Zygosity=Unspecified (PubMed=20544847).
CC   Sequence variation: Mutation; HGNC; HGNC:11730; TERT; Simple; c.242_243CC>TT (-138/-139CC>TT); Zygosity=Unspecified; Note=In promoter (PubMed=23348503).
CC   Omics: Variations; SNP array analysis.
DI   NCIt; C3224; Melanoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Cancer cell line
DT   Created: 06-06-12; Last updated: 10-04-25; Version: 17
//
RX   PubMed=20544847; DOI=10.1002/gcc.20785;
RA   Gast A., Scherer D., Chen B.-W., Bloethner S., Melchert S., Sucker A.,
RA   Hemminki K., Schadendorf D., Kumar R.;
RT   "Somatic alterations in the melanoma genome: a high-resolution
RT   array-based comparative genomic hybridization study.";
RL   Genes Chromosomes Cancer 49:733-745(2010).
//
RX   PubMed=23348503; DOI=10.1126/science.1230062;
RA   Horn S., Figl A., Rachakonda P.S., Fischer C., Sucker A., Gast A.,
RA   Kadel S., Moll I., Nagore E., Hemminki K., Schadendorf D., Kumar R.;
RT   "TERT promoter mutations in familial and sporadic melanoma.";
RL   Science 339:959-961(2013).
//