Cellosaurus logo
expasy logo

Cellosaurus GM23919 (CVCL_4F85)

[Text version]
Cell line name GM23919
Accession CVCL_4F85
Resource Identification Initiative To cite this cell line use: GM23919 (RRID:CVCL_4F85)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:89; ACADM; Simple; p.Lys329Glu (c.985A>G); ClinVar=VCV000003586; Zygosity=Homozygous (Coriell=GM23919).
Disease Medium-chain acyl-CoA dehydrogenase deficiency (NCIt: C84538)
Medium chain acyl-CoA dehydrogenase deficiency (ORDO: Orphanet_42)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23919
Encyclopedic resources Wikidata; Q54853440
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number13