ID   GM10309
AC   CVCL_W010
SY   GM10309A
DR   CLO; CLO_0029042
DR   BioSample; SAMN00799908
DR   Coriell; GM10309
DR   Wikidata; Q54844370
RX   CelloPub=CLPUB00447;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:4976; HLCS; Simple; p.Val550Met (c.1648G>A); ClinVar=VCV000001911; Zygosity=Heterozygous (Coriell=GM10309).
CC   Sequence variation: Mutation; HGNC; HGNC:4976; HLCS; Simple; p.Arg565Ter (c.1693C>T); ClinVar=VCV000426486; Zygosity=Heterozygous (Coriell=GM10309).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C98842; Holocarboxylase synthetase deficiency
DI   ORDO; Orphanet_79242; Holocarboxylase synthetase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4M
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 17
//
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).
//