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Cellosaurus GM05002 (CVCL_AT07)

[Text version]
Cell line name GM05002
Synonyms GM5002
Accession CVCL_AT07
Resource Identification Initiative To cite this cell line use: GM05002 (RRID:CVCL_AT07)
Comments Population: Caucasian; Irish.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4189; GCDH; Simple; p.Cys115Tyr (c.344G>A); ClinVar=VCV000863301; Zygosity=Heterozygous (Coriell=GM05002).
  • Mutation; HGNC; HGNC:4189; GCDH; Simple; p.Pro248Leu (c.743C>T); ClinVar=VCV000370244; Zygosity=Heterozygous (Coriell=GM05002).
Disease Glutaric acidemia type 1 (NCIt: C99101)
Glutaryl-CoA dehydrogenase deficiency (ORDO: Orphanet_25)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Finite cell line
Publications

CLPUB00720
Greene A.E., Mulivor R.A.
1986/1987 catalog of cell lines. NIGMS human genetic mutant cell repository. 13th edition. October 1986.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda; USA (1986)

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)

Cross-references
Cell line collections (Providers) Coriell; GM05002
Cell line databases/resources CLO; CLO_0025684
Encyclopedic resources Wikidata; Q54838801
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number14