• Mutation; HGNC; HGNC:6342; KIT; Simple; p.Val560Gly (c.1679T>G); ClinVar=VCV000375916; Zygosity=Heterozygous (PubMed=12519307).
  

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=20814942; DOI=10.1002/0471142735.im0737s90; PMCID=PMC2923748
Radinger M., Jensen B.M., Kuehn H.S., Kirshenbaum A.S., Gilfillan A.M.
Generation, isolation, and maintenance of human mast cells and mast cell lines derived from peripheral blood or cord blood.
Curr. Protoc. Immunol. 90:7.37.1-7.37.12(2010)

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)

PubMed=37025992; DOI=10.3389/fimmu.2023.1078958; PMCID=PMC10071028
Bandara G., Falduto G.H., Luker A.J., Bai Y., Pfeiffer A., Lack J.B., Metcalfe D.D., Olivera A.
CRISPR/Cas9-engineering of HMC-1.2 cells renders a human mast cell line with a single D816V-KIT mutation: an improved preclinical model for research on mastocytosis.
Front. Immunol. 14:1078958.1-1078958.17(2023)