ID   GM05002
AC   CVCL_AT07
SY   GM5002
DR   CLO; CLO_0025684
DR   Coriell; GM05002
DR   Wikidata; Q54838801
RX   CelloPub=CLPUB00447;
RX   CelloPub=CLPUB00720;
CC   Population: Caucasian; Irish.
CC   Sequence variation: Mutation; HGNC; 4189; GCDH; Simple; p.Cys115Tyr (c.344G>A); ClinVar=VCV000863301; Zygosity=Heterozygous (Coriell=GM05002).
CC   Sequence variation: Mutation; HGNC; 4189; GCDH; Simple; p.Pro248Leu (c.743C>T); ClinVar=VCV000370244; Zygosity=Heterozygous (Coriell=GM05002).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C99101; Glutaric acidemia type 1
DI   ORDO; Orphanet_25; Glutaryl-CoA dehydrogenase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 30-01-24; Version: 13
//
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).
//
RX   CelloPub=CLPUB00720;
RA   Greene A.E., Mulivor R.A.;
RT   "1986/1987 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 13th edition. October 1986.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda; USA (1986).
//