ID   GM25475
AC   CVCL_D2YZ
DR   Coriell; GM25475
DR   Wikidata; Q127380891
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:8512; OTC; Simple; p.Arg92Pro (c.275G>C); ClinVar=VCV000097153; Zygosity=Hemizygous (Coriell=GM25475).
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   33Y
CA   Transformed cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
//