ID HMC-1.1 AC CVCL_H206 SY HMC-1_1; HMC1.1; HMC-1(560); HMC-1-560 DR cancercelllines; CVCL_H206 DR Cosmic; 819947 DR Cosmic; 1476309 DR Cosmic; 1476421 DR Cosmic; 1498491 DR GEO; GSM6674134 DR GEO; GSM6674135 DR GEO; GSM6674136 DR Millipore; SCC067 DR Wikidata; Q54889909 RX PubMed=11861291; RX PubMed=12519307; RX PubMed=20814942; RX PubMed=25149487; RX PubMed=37025992; CC Sequence variation: Mutation; HGNC; HGNC:6342; KIT; Simple; p.Val560Gly (c.1679T>G); ClinVar=VCV000375916; Zygosity=Heterozygous (PubMed=12519307). CC Omics: Transcriptomics; RNAseq. CC Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. CC Cell type: Mast cell; CL=CL_0000097. ST Source(s): Millipore=SCC067 ST Amelogenin: X ST CSF1PO: 10,13 ST D13S317: 11 ST D16S539: 10,12 ST D18S51: 14,20 ST D21S11: 29 ST D3S1358: 15 ST D5S818: 12,13 ST D7S820: 10,11 ST D8S1179: 12 ST FGA: 18,20 ST Penta D: 11 ST Penta E: 9,19 ST TH01: 7,9.3 ST TPOX: 8,11 ST vWA: 19 DI NCIt; C3169; Mast cell leukemia DI ORDO; Orphanet_98851; Mast cell leukemia OX NCBI_TaxID=9606; ! Homo sapiens (Human) HI CVCL_0003 ! HMC-1 SX Male AG 52Y CA Cancer cell line DT Created: 11-02-13; Last updated: 10-04-25; Version: 18 // RX PubMed=20814942; DOI=10.1002/0471142735.im0737s90; PMCID=PMC2923748; RA Radinger, Madeleine RA Jensen, Bettina Margrethe RA Kuehn, Hye Sun RA Kirshenbaum, Arnold S. RA Gilfillan, Alasdair M. RT "Generation, isolation, and maintenance of human mast cells and mast RT cell lines derived from peripheral blood or cord blood."; RL Curr. Protoc. Immunol. 90:7.37.1-7.37.12(2010). // RX PubMed=25149487; DOI=10.1007/978-1-4939-1173-8_8; RA Passante, Egle RT "Mast cell and basophil cell lines: a compendium."; RL Methods Mol. Biol. 1192:101-113(2014). // RX PubMed=37025992; DOI=10.3389/fimmu.2023.1078958; PMCID=PMC10071028; RA Bandara, Geethani RA Falduto, Guido H. RA Luker, Andrea J. RA Bai, Yun RA Pfeiffer, Annika RA Lack, Justin B. RA Metcalfe, Dean D. RA Olivera, Ana RT "CRISPR/Cas9-engineering of HMC-1.2 cells renders a human mast cell RT line with a single D816V-KIT mutation: an improved preclinical model RT for research on mastocytosis."; RL Front. Immunol. 14:1078958.1-1078958.17(2023). // RX PubMed=12519307; DOI=10.1046/j.1365-2567.2003.01559.x; PMCID=PMC1782858; RA Sundstrom, Magnus RA Vliagoftis, Harissios RA Karlberg, Peter RA Butterfield, Joseph H. RA Nilsson, Kenneth RA Metcalfe, Dean D. RA Nilsson, Gunnar RT "Functional and phenotypic studies of two variants of a human mast RT cell line with a distinct set of mutations in the c-kit RT proto-oncogene."; RL Immunology 108:89-97(2003). // RX PubMed=11861291; DOI=10.1182/blood.V99.5.1741; RA Ma, Yong-Sheng RA Zeng, Shan RA Metcalfe, Dean D. RA Akin, Cem RA Dimitrijevic, Sasa RA Butterfield, Joseph H. RA McMahon, Gerald RA Longley, B. Jack RT "The c-KIT mutation causing human mastocytosis is resistant to STI571 RT and other KIT kinase inhibitors; kinases with enzymatic site mutations RT show different inhibitor sensitivity profiles than wild-type kinases RT and those with regulatory-type mutations."; RL Blood 99:1741-1744(2002). //