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Cellosaurus GM12029 (CVCL_AT13)

[Text version]
Cell line name GM12029
Accession CVCL_AT13
Resource Identification Initiative To cite this cell line use: GM12029 (RRID:CVCL_AT13)
Comments Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4189; GCDH; Simple; p.Arg402Trp (c.1204C>T); ClinVar=VCV000002085; Zygosity=Homozygous (Coriell=GM12029).
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 Sex unspecified
Age at sampling Age unspecified
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM12029
Cell line databases/resources CLO; CLO_0020443
Encyclopedic resources Wikidata; Q54845467
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number13