ID   GM23637
AC   CVCL_HK82
DR   Coriell; GM23637
DR   Wikidata; Q54853175
CC   Sequence variation: Mutation; HGNC; HGNC:8512; OTC; Simple; p.Arg277Trp (c.829C>T); ClinVar=VCV000010999; Zygosity=Heterozygous (Coriell=GM23637).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: At sampling donor was not affected with OTC deficiency but at risk for disease.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84957; Ornithine carbamoyltransferase deficiency disease
DI   ORDO; Orphanet_664; Ornithine transcarbamylase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   37Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 11
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