Cellosaurus logo
expasy logo

Cellosaurus GM23858 (CVCL_GZ52)

[Text version]
Cell line name GM23858
Accession CVCL_GZ52
Resource Identification Initiative To cite this cell line use: GM23858 (RRID:CVCL_GZ52)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:17996; NAGS; Simple; c.-3063C>A; Zygosity=Unspecified; Note=In enhancer region (Coriell=GM23858).
Disease N-acetylglutamate synthase deficiency (NCIt: C129307)
Hyperammonemia due to N-acetylglutamate synthase deficiency (ORDO: Orphanet_927)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 20Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23858
Encyclopedic resources Wikidata; Q54853383
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number12