ID   GM23684
AC   CVCL_AY82
DR   Coriell; GM23684
DR   Wikidata; Q54853225
CC   Sequence variation: Mutation; HGNC; HGNC:2323; CPS1; Simple; p.Glu1034Gly (c.3101A>G); Zygosity=Unspecified (Coriell=GM23684).
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   5Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 10
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