ID   GM23667
AC   CVCL_Y738
DR   Coriell; GM23667
DR   Wikidata; Q54853211
CC   Sequence variation: Mutation; HGNC; HGNC:8512; OTC; Simple; c.216+1G>T (IVS2+1G>T); ClinVar=VCV000097135; Zygosity=Hemizygous; Note=Splice donor mutation (Coriell=GM23667).
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   15Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 15
//