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Cellosaurus GM17475 (CVCL_4F81)

[Text version]
Cell line name GM17475
Accession CVCL_4F81
Resource Identification Initiative To cite this cell line use: GM17475 (RRID:CVCL_4F81)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:92; ACADVL; Simple; p.Asn122Asp (c.364A>G); ClinVar=VCV000376917; Zygosity=Homozygous (Coriell=GM17475).
Disease Very long-chain acyl-CoA dehydrogenase deficiency (NCIt: C98647)
Very long chain acyl-CoA dehydrogenase deficiency (ORDO: Orphanet_26793)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 10D
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM17475
Cell line databases/resources CLO; CLO_0012927
Encyclopedic resources Wikidata; Q54848911
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number13