ID   GM20266
AC   CVCL_IJ42
DR   CLO; CLO_0027833
DR   Coriell; GM20266
DR   Wikidata; Q54850877
CC   Sequence variation: Mutation; HGNC; HGNC:4801; HADHA; Simple; p.Glu510Gln (c.1528G>C); ClinVar=VCV000100085; Zygosity=Homozygous (Coriell=GM20266).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129929; Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
DI   ORDO; Orphanet_5; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Children
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
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