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Cellosaurus GM23882 (CVCL_AY91)

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Cell line name GM23882
Accession CVCL_AY91
Resource Identification Initiative To cite this cell line use: GM23882 (RRID:CVCL_AY91)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2323; CPS1; Simple; c.3337-1G>T; ClinVar=VCV001343551; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM23882).
  • Mutation; HGNC; HGNC:2323; CPS1; Simple; p.Ala1155Val (c.3464C>T); ClinVar=VCV000477855; Zygosity=Heterozygous (Coriell=GM23882).
Disease Carbamoyl-phosphate synthetase I deficiency (NCIt: C84612)
Carbamoyl-phosphate synthetase 1 deficiency (ORDO: Orphanet_147)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 36Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23882
Encyclopedic resources Wikidata; Q54853416
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number14