ID   GM24354
AC   CVCL_AZ24
DR   Coriell; GM24354
DR   Wikidata; Q54853734
CC   Sequence variation: Mutation; HGNC; HGNC:2323; CPS1; Simple; p.Arg1262Ter (c.3784C>T); ClinVar=VCV000552571; Zygosity=Heterozygous (Coriell=GM24354).
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   39Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
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