ID   GM23769
AC   CVCL_Y752
DR   Coriell; GM23769
DR   Wikidata; Q54853297
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:8512; OTC; Simple; p.Leu349Pro (c.1046T>C); Zygosity=Mosaic (Coriell=GM23769).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: At sampling donor was not affected with ornithine carbamoyltransferase deficiency disease but at risk.
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   35Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 13
//