ID   GM17475
AC   CVCL_4F81
DR   CLO; CLO_0012927
DR   Coriell; GM17475
DR   Wikidata; Q54848911
CC   Sequence variation: Mutation; HGNC; HGNC:92; ACADVL; Simple; p.Asn122Asp (c.364A>G); ClinVar=VCV000376917; Zygosity=Homozygous (Coriell=GM17475).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C98647; Very long-chain acyl-CoA dehydrogenase deficiency
DI   ORDO; Orphanet_26793; Very long chain acyl-CoA dehydrogenase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10D
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 13
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