ID   GM03878
AC   CVCL_EF95
SY   GM 3878; GM03878A
DR   CLO; CLO_0016038
DR   BioSample; SAMN00808588
DR   Coriell; GM03878
DR   Wikidata; Q54838295
RX   CelloPub=CLPUB00447;
RX   PubMed=8896573;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4624; GSS; Simple; p.Arg164Gln (c.491G>A); ClinVar=VCV000008525; Zygosity=Heterozygous; Note=Affects splicing (PubMed=8896573).
CC   Sequence variation: Mutation; HGNC; 4624; GSS; Simple; p.Ala2Profs*14 (c.4delG); ClinVar=VCV000338302; Zygosity=Heterozygous (PubMed=8896573).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C128193; Glutathione synthetase deficiency
DI   ORDO; Orphanet_32; Glutathione synthetase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 29-06-23; Version: 12
//
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   PubMed=8896573; DOI=10.1038/ng1196-361;
RA   Shi Z.-Z., Habib G.M., Rhead W.J., Gahl W.A., He X.-W., Sazer S.,
RA   Lieberman M.W.;
RT   "Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.";
RL   Nat. Genet. 14:361-365(1996).
//