ID   GM23882
AC   CVCL_AY91
DR   Coriell; GM23882
DR   Wikidata; Q54853416
CC   Sequence variation: Mutation; HGNC; HGNC:2323; CPS1; Simple; c.3337-1G>T; ClinVar=VCV001343551; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM23882).
CC   Sequence variation: Mutation; HGNC; HGNC:2323; CPS1; Simple; p.Ala1155Val (c.3464C>T); ClinVar=VCV000477855; Zygosity=Heterozygous (Coriell=GM23882).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84612; Carbamoyl-phosphate synthetase I deficiency
DI   ORDO; Orphanet_147; Carbamoyl-phosphate synthetase 1 deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   36Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 14
//