ID   GM23439
AC   CVCL_Y718
DR   Coriell; GM23439
DR   Wikidata; Q54853081
CC   Sequence variation: Mutation; HGNC; HGNC:8512; OTC; Simple; p.Gln279Ter (c.835C>T); ClinVar=VCV000097341; Zygosity=Heterozygous (Coriell=GM23439).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: At sampling donor was asymptomatic for ornithine carbamoyltransferase deficiency.
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   8Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 14
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