ID   GM26194
AC   CVCL_A2VK
DR   Coriell; GM26194
DR   Wikidata; Q105507064
CC   Sequence variation: Mutation; HGNC; HGNC:92; ACADVL; Simple; p.Ile373Thr (c.1118T>C); Zygosity=Heterozygous (Coriell=GM26194).
CC   Sequence variation: Mutation; HGNC; HGNC:92; ACADVL; Simple; p.Arg453Gln (c.1358G>A); ClinVar=VCV000374123; Zygosity=Heterozygous (Coriell=GM26194).
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   <1Y
CA   Finite cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
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