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Cellosaurus HMC-1.2 (CVCL_H205)

[Text version]
Cell line name HMC-1.2
Synonyms HMC-1_2; HMC1_2; HMC1.2; HMC-1(560,816); HMC-1-560_816
Accession CVCL_H205
Resource Identification Initiative To cite this cell line use: HMC-1.2 (RRID:CVCL_H205)
Comments Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Cell type: Mast cell; CL=CL_0000097.
Sequence variations
  • Mutation; HGNC; 6342; KIT; Simple; p.Val560Gly (c.1679T>G); ClinVar=VCV000375916; Zygosity=Heterozygous (PubMed=12519307).
  • Mutation; HGNC; 6342; KIT; Simple; p.Asp816Val (c.2447A>T); ClinVar=VCV000013852; Zygosity=Heterozygous (PubMed=12519307).
Disease Mast cell leukemia (NCIt: C3169)
Mast cell leukemia (ORDO: Orphanet_98851)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0003 (HMC-1)
Sex of cell Male
Age at sampling 52Y
Category Cancer cell line
STR profile Source(s): Millipore=SCC062

Markers:
AmelogeninX
CSF1PO10,13
D3S135815
D5S81812,13
D7S82010,11
D8S117912
D13S31710,11
D16S53912
D18S5114,20
D21S1129
FGA18,20
Penta D11
Penta E9,19
TH017,9.3
TPOX8,11
vWA17,19

Run an STR similarity search on this cell line
Publications

PubMed=11861291; DOI=10.1182/blood.V99.5.1741
Ma Y.-S., Zeng S., Metcalfe D.D., Akin C., Dimitrijevic S., Butterfield J.H., McMahon G., Longley B.J.
The c-KIT mutation causing human mastocytosis is resistant to STI571 and other KIT kinase inhibitors; kinases with enzymatic site mutations show different inhibitor sensitivity profiles than wild-type kinases and those with regulatory-type mutations.
Blood 99:1741-1744(2002)

PubMed=12519307; DOI=10.1046/j.1365-2567.2003.01559.x; PMCID=PMC1782858
Sundstrom M., Vliagoftis H., Karlberg P., Butterfield J.H., Nilsson K., Metcalfe D.D., Nilsson G.
Functional and phenotypic studies of two variants of a human mast cell line with a distinct set of mutations in the c-kit proto-oncogene.
Immunology 108:89-97(2003)

PubMed=25149487; DOI=10.1007/978-1-4939-1173-8_8
Passante E.
Mast cell and basophil cell lines: a compendium.
Methods Mol. Biol. 1192:101-113(2014)

Cross-references
Cell line collections (Providers) Millipore; SCC062
Cell line databases/resources cancercelllines; CVCL_H205
Encyclopedic resources Wikidata; Q54889910
Polymorphism and mutation databases Cosmic; 819945
Cosmic; 1476310
Cosmic; 1476422
Cosmic; 1498492
Entry history
Entry creation11-Feb-2013
Last entry update02-May-2024
Version number17