ID UKRV-Mel-20f AC CVCL_C404 DR cancercelllines; CVCL_C404 DR Cosmic; 1846713 DR Cosmic; 2686526 DR ESTDAB; ESTDAB-236 DR Wikidata; Q54990613 RX PubMed=23348503; 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:11730; TERT; Simple; c.242_243CC>TT (-138/-139CC>TT); Zygosity=Unspecified; Note=In promoter (PubMed=23348503). ST Source(s): ESTDAB=ESTDAB-236 ST Amelogenin: X,Y ST CSF1PO: 12,13 ST D13S317: 12 ST D3S1358: 17 ST D5S818: 12,14 ST D7S820: 10,12 ST FGA: 21,25 ST TH01: 7,9 ST TPOX: 8 ST vWA: 16,19 DI NCIt; C3224; Melanoma OX NCBI_TaxID=9606; ! Homo sapiens (Human) OI CVCL_A721 ! UKRV-Mel-20a OI CVCL_C401 ! UKRV-Mel-20b OI CVCL_C402 ! UKRV-Mel-20c OI CVCL_C403 ! UKRV-Mel-20e OI CVCL_C405 ! UKRV-Mel-20h SX Male AG 27Y CA Cancer cell line DT Created: 22-10-12; Last updated: 19-12-24; Version: 14 // 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). //