ID   Ma-Mel-05
AC   CVCL_A118
SY   Ma-Mel-5; MaMel-05; MaMel05; MaMel5
DR   BTO; BTO_0005338
DR   cancercelllines; CVCL_A118
DR   Cosmic; 1181768
DR   Cosmic; 1467736
DR   Cosmic; 1846563
DR   Cosmic; 2163838
DR   Cosmic; 2686324
DR   ECACC; 13012461
DR   ESTDAB; ESTDAB-149
DR   GEO; GSM436987
DR   Progenetix; CVCL_A118
DR   Wikidata; Q54903727
RX   PubMed=17311103;
RX   PubMed=20544847;
RX   PubMed=23348503;
RX   PubMed=23851445;
RX   PubMed=26909863;
CC   Sequence variation: Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=26909863).
CC   Sequence variation: Gene deletion; HGNC; HGNC:1788; CDKN2B; Zygosity=Homozygous (PubMed=26909863).
CC   Sequence variation: Mutation; HGNC; HGNC:5382; IDH1; Simple; p.Arg132Cys (c.394C>T); ClinVar=VCV000375891; Zygosity=Unspecified (PubMed=23851445).
CC   Sequence variation: Mutation; HGNC; HGNC:7989; NRAS; Simple; p.Gln61Arg (c.182A>G); ClinVar=VCV000013900; Zygosity=Unspecified (PubMed=17311103; PubMed=23348503; PubMed=23851445).
CC   Sequence variation: Mutation; HGNC; HGNC:9588; PTEN; Simple; p.Lys128Asn (c.384G>T); Zygosity=Unspecified (PubMed=23851445).
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: SNP array analysis.
CC   Derived from site: Metastatic; Hypodermis; UBERON=UBERON_0002072.
CC   Derived from site: Metastatic; Skin; UBERON=UBERON_0002097.
ST   Source(s): ECACC=13012461; ESTDAB=ESTDAB-149
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 11,13
ST   D16S539: 8,13
ST   D3S1358: 15,17
ST   D5S818: 9,11
ST   D7S820: 11
ST   FGA: 20,21
ST   TH01: 9.3
ST   TPOX: 8
ST   vWA: 15,17
DI   NCIt; C3224; Melanoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   49Y
CA   Cancer cell line
DT   Created: 06-06-12; Last updated: 19-12-24; Version: 23
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RX   PubMed=17311103; DOI=10.1371/journal.pone.0000236; PMCID=PMC1794595;
RA   Ugurel S., Thirumaran R.K., Bloethner S., Gast A., Sucker A.,
RA   Mueller-Berghaus J., Rittgen W., Hemminki K., Becker J.C., Kumar R.,
RA   Schadendorf D.;
RT   "B-RAF and N-RAS mutations are preserved during short time in vitro
RT   propagation and differentially impact prognosis.";
RL   PLoS ONE 2:E236-E236(2007).
//
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).
//
RX   PubMed=23851445; DOI=10.1158/1541-7786.MCR-13-0006;
RA   Dahl C., Christensen C., Jonsson G., Lorentzen A., Skjodt M.L.,
RA   Borg A., Pawelec G., Guldberg P.;
RT   "Mutual exclusivity analysis of genetic and epigenetic drivers in
RT   melanoma identifies a link between p14 ARF and RARbeta signaling.";
RL   Mol. Cancer Res. 11:1166-1178(2013).
//
RX   PubMed=26909863; DOI=10.18632/oncotarget.7503; PMCID=PMC4941330;
RA   Xie H.-P., Rachakonda P.S., Heidenreich B., Nagore E., Sucker A.,
RA   Hemminki K., Schadendorf D., Kumar R.;
RT   "Mapping of deletion breakpoints at the CDKN2A locus in melanoma:
RT   detection of MTAP-ANRIL fusion transcripts.";
RL   Oncotarget 7:16490-16504(2016).
//