Cellosaurus cell line GM03878 (CVCL

Cellosaurus GM03878 (CVCL_EF95)

Cross-references
Cell line name	GM03878
Synonyms	GM 3878; GM03878A
Accession	CVCL_EF95
Resource Identification Initiative	To cite this cell line use: GM03878 (RRID:CVCL_EF95)
Comments	Population: Caucasian. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:4624; GSS; Simple; p.Arg164Gln (c.491G>A); ClinVar=VCV000008525; Zygosity=Heterozygous; Note=Affects splicing (PubMed=8896573). Mutation; HGNC; HGNC:4624; GSS; Simple; p.Ala2Profs*14 (c.4delG); ClinVar=VCV000338302; Zygosity=Heterozygous (PubMed=8896573).
Disease	Glutathione synthetase deficiency (NCIt: C128193) Glutathione synthetase deficiency (ORDO: Orphanet_32)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	5Y
Category	Finite cell line
Publications	CLPUB00447 Mulivor R.A., Suchy S.F. 1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992. (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992) PubMed=8896573; DOI=10.1038/ng1196-361 Shi Z.-Z., Habib G.M., Rhead W.J., Gahl W.A., He X.-W., Sazer S., Lieberman M.W. Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. Nat. Genet. 14:361-365(1996)
Cell line collections (Providers)	Coriell; GM03878
Cell line databases/resources	CLO; CLO_0016038
Biological sample resources	BioSample; SAMN00808588
Encyclopedic resources	Wikidata; Q54838295
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	13