ID   GM17476
AC   CVCL_IN34
DR   CLO; CLO_0012935
DR   Coriell; GM17476
DR   Wikidata; Q54848912
CC   Sequence variation: Mutation; HGNC; HGNC:87; ACAD8; Simple; p.Arg302Gln (c.905G>A); ClinVar=VCV000005359; Zygosity=Homozygous (Coriell=GM17476).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129975; Isobutyryl-CoA dehydrogenase deficiency
DI   ORDO; Orphanet_79159; Isobutyryl-CoA dehydrogenase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   2Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 13
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