ID   GM12029
AC   CVCL_AT13
DR   CLO; CLO_0020443
DR   Coriell; GM12029
DR   Wikidata; Q54845467
CC   Sequence variation: Mutation; HGNC; HGNC:4189; GCDH; Simple; p.Arg402Trp (c.1204C>T); ClinVar=VCV000002085; Zygosity=Homozygous (Coriell=GM12029).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C99101; Glutaric acidemia type 1
DI   ORDO; Orphanet_25; Glutaryl-CoA dehydrogenase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Age unspecified
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
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