ID   Ma-Mel-48c
AC   CVCL_N787
DR   cancercelllines; CVCL_N787
DR   Cosmic; 1846631
DR   Cosmic; 2686419
DR   Cosmic; 2757115
DR   GEO; GSM1467848
DR   Progenetix; CVCL_N787
DR   Wikidata; Q54903807
RX   PubMed=23348503;
RX   PubMed=25294904;
CC   Sequence variation: Gene deletion; HGNC; HGNC:914; B2M; Zygosity=Heterozygous (PubMed=25294904).
CC   Sequence variation: Mutation; HGNC; HGNC:914; B2M; Simple; p.Asp96fs*4; Zygosity=Heterozygous (PubMed=25294904).
CC   Sequence variation: Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Gly469Arg (c.1405G>A); ClinVar=VCV000177775; Zygosity=Unspecified (PubMed=23348503).
CC   Sequence variation: Mutation; HGNC; HGNC:11730; TERT; Simple; c.1-146C>T (c.250C>T) (C250T); Zygosity=Unspecified; Note=In promoter (PubMed=23348503).
CC   Omics: Variations; SNP array analysis.
CC   Derived from site: Metastatic; Lymph node; UBERON=UBERON_0000029.
DI   NCIt; C3224; Melanoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A183 ! Ma-Mel-48a
OI   CVCL_N786 ! Ma-Mel-48b
SX   Male
AG   88Y
CA   Cancer cell line
DT   Created: 05-11-13; Last updated: 10-04-25; Version: 13
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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).
//
RX   PubMed=25294904; DOI=10.1158/1078-0432.CCR-14-0567; PMCID=PMC8728890;
RA   Sucker A., Zhao F., Real B., Heeke C., Bielefeld N., Massen S.,
RA   Horn S., Moll I., Maltaner R., Horn P.A., Schilling B., Sabbatino F.,
RA   Lennerz V., Kloor M., Ferrone S., Schadendorf D., Falk C.S.,
RA   Griewank K.G., Paschen A.;
RT   "Genetic evolution of T-cell resistance in the course of melanoma
RT   progression.";
RL   Clin. Cancer Res. 20:6593-6604(2014).
//