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   Millipore; SCC067
DR   Wikidata; Q54889909
RX   PubMed=11861291;
RX   PubMed=12519307;
RX   PubMed=25149487;
CC   Sequence variation: Mutation; HGNC; 6342; KIT; Simple; p.Val560Gly (c.1679T>G); ClinVar=VCV000375916; Zygosity=Heterozygous (PubMed=12519307).
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: 02-05-24; Version: 16
//
RX   PubMed=11861291; DOI=10.1182/blood.V99.5.1741;
RA   Ma Y.-S., Zeng S., Metcalfe D.D., Akin C., Dimitrijevic S.,
RA   Butterfield J.H., McMahon G., Longley B.J.;
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).
//
RX   PubMed=12519307; DOI=10.1046/j.1365-2567.2003.01559.x;
RA   Sundstrom M., Vliagoftis H., Karlberg P., Butterfield J.H.,
RA   Nilsson K., Metcalfe D.D., Nilsson G.;
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=25149487; DOI=10.1007/978-1-4939-1173-8_8;
RA   Passante E.;
RT   "Mast cell and basophil cell lines: a compendium.";
RL   Methods Mol. Biol. 1192:101-113(2014).
//