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Cellosaurus GM26194 (CVCL_A2VK)

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Cell line name GM26194
Accession CVCL_A2VK
Resource Identification Initiative To cite this cell line use: GM26194 (RRID:CVCL_A2VK)
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.Ile373Thr (c.1118T>C); Zygosity=Heterozygous (Coriell=GM26194).
  • Mutation; HGNC; HGNC:92; ACADVL; Simple; p.Arg453Gln (c.1358G>A); ClinVar=VCV000374123; Zygosity=Heterozygous (Coriell=GM26194).
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 <1Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM26194
Encyclopedic resources Wikidata; Q105507064
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7