ID   GM23455
AC   CVCL_Y720
DR   Coriell; GM23455
DR   Wikidata; Q54853090
CC   Sequence variation: Mutation; HGNC; HGNC:8512; OTC; Simple; p.Pro347Ser (c.1039C>T); ClinVar=VCV002138547; Zygosity=Hemizygous (Coriell=GM23455).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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   Male
AG   3Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 13
//