ID   GM23858
AC   CVCL_GZ52
DR   Coriell; GM23858
DR   Wikidata; Q54853383
CC   Sequence variation: Mutation; HGNC; HGNC:17996; NAGS; Simple; c.-3063C>A; Zygosity=Unspecified; Note=In enhancer region (Coriell=GM23858).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129307; N-acetylglutamate synthase deficiency
DI   ORDO; Orphanet_927; Hyperammonemia due to N-acetylglutamate synthase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   20Y
CA   Transformed cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 12
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