ID   GM11409
AC   CVCL_N179
SY   GM17369
DR   CLO; CLO_0013712
DR   CLO; CLO_0020788
DR   Coriell; GM11409
DR   Coriell; GM17369
DR   Wikidata; Q54845065
RX   CelloPub=CLPUB00447;
CC   Part of: Human variation panel.
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:6342; KIT; Simple; p.Gly664Arg (c.1990G>A); ClinVar=VCV000013843; Zygosity=Heterozygous (Coriell=GM11409).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   40Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 16
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//