ID   GM10653
AC   CVCL_AT11
DR   CLO; CLO_0024579
DR   BioSample; SAMN00800136
DR   Coriell; GM10653
DR   Wikidata; Q54844574
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4189; GCDH; Simple; c.127+48T>C; ClinVar=VCV000255394; Zygosity=Heterozygous (Coriell=GM10653).
CC   Sequence variation: Mutation; HGNC; HGNC:4189; GCDH; Simple; p.Met191Thr (c.572T>C); ClinVar=VCV000198396; Zygosity=Heterozygous (Coriell=GM10653).
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   Female
AG   12Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 15
//
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).
//