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Cellosaurus GM16396 (CVCL_AT43)

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Cell line name GM16396
Accession CVCL_AT43
Resource Identification Initiative To cite this cell line use: GM16396 (RRID:CVCL_AT43)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4189; GCDH; Simple; p.Ile67Serfs*75 (c.198delC); ClinVar=VCV000371205; Zygosity=Heterozygous (Coriell=GM16396).
  • Mutation; HGNC; HGNC:4189; GCDH; Simple; p.Tyr74Cys (c.221A>G); Zygosity=Heterozygous (Coriell=GM16396).
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 9Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM16396
Cell line databases/resources CLO; CLO_0019513
Encyclopedic resources Wikidata; Q54848507
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number14