ID   Ma-Mel-47
AC   CVCL_A182
DR   BTO; BTO_0005345
DR   cancercelllines; CVCL_A182
DR   Cosmic; 1846628
DR   Cosmic; 2163862
DR   Cosmic; 2686415
DR   ESTDAB; ESTDAB-194
DR   Wikidata; Q54903804
RX   PubMed=17311103;
RX   PubMed=23348503;
RX   PubMed=23851445;
CC   Sequence variation: Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Unspecified (PubMed=17311103; PubMed=23348503; PubMed=23851445).
CC   Sequence variation: Mutation; HGNC; HGNC:1787; CDKN2A; Simple; p.Leu65Pro (c.194T>C); ClinVar=VCV000820351; Zygosity=Unspecified (PubMed=23851445).
CC   Sequence variation: Mutation; HGNC; HGNC:11730; TERT; Simple; c.228_229CC>TT (-124/-125CC>TT); Zygosity=Unspecified; Note=In promoter (PubMed=23348503).
CC   Derived from site: Metastatic; Lymph node; UBERON=UBERON_0000029.
ST   Source(s): ESTDAB=ESTDAB-194
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 9,11
ST   D3S1358: 17
ST   D5S818: 11,12
ST   D7S820: 8,11
ST   FGA: 24
ST   TH01: 9,9.3
ST   TPOX: 8
ST   vWA: 16,17
DI   NCIt; C3224; Melanoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   33Y
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=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).
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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).
//