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Cellosaurus GM20266 (CVCL_IJ42)

[Text version]
Cell line name GM20266
Accession CVCL_IJ42
Resource Identification Initiative To cite this cell line use: GM20266 (RRID:CVCL_IJ42)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4801; HADHA; Simple; p.Glu510Gln (c.1528G>C); ClinVar=VCV000100085; Zygosity=Homozygous (Coriell=GM20266).
Disease Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (NCIt: C129929)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (ORDO: Orphanet_5)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Children
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20266
Cell line databases/resources CLO; CLO_0027833
Encyclopedic resources Wikidata; Q54850877
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number12