ID   GM16393
AC   CVCL_AT40
DR   CLO; CLO_0019506
DR   Coriell; GM16393
DR   Wikidata; Q54848503
CC   Sequence variation: Mutation; HGNC; HGNC:4189; GCDH; Simple; p.Arg227Pro (c.680G>C); ClinVar=VCV000002089; Zygosity=Heterozygous (Coriell=GM16393).
CC   Sequence variation: Mutation; HGNC; HGNC:4189; GCDH; Simple; p.Val400Met (c.1198G>A); ClinVar=VCV000002088; Zygosity=Heterozygous (Coriell=GM16393).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C99101; Glutaric acidemia type 1
DI   ORDO; Orphanet_25; Glutaryl-CoA dehydrogenase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   9Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 14
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