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Cellosaurus GM03878 (CVCL_EF95)

[Text version]
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; 4624; GSS; Simple; p.Arg164Gln (c.491G>A); ClinVar=VCV000008525; Zygosity=Heterozygous; Note=Affects splicing (PubMed=8896573).
  • Mutation; 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)

Cross-references
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 creation13-Jul-2016
Last entry update29-Jun-2023
Version number12