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Cellosaurus GM23495 (CVCL_4F83)

[Text version]
Cell line name GM23495
Accession CVCL_4F83
Resource Identification Initiative To cite this cell line use: GM23495 (RRID:CVCL_4F83)
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=GM23495).
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)
Originate from same individual CVCL_4F84 ! GM23496
Sex of cell Female
Age at sampling 8M
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23495
Encyclopedic resources Wikidata; Q54853115
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number13