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Cellosaurus GM24354 (CVCL_AZ24)

[Text version]
Cell line name GM24354
Accession CVCL_AZ24
Resource Identification Initiative To cite this cell line use: GM24354 (RRID:CVCL_AZ24)
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; p.Arg1262Ter (c.3784C>T); ClinVar=VCV000552571; Zygosity=Heterozygous (Coriell=GM24354).
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 39Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM24354
Encyclopedic resources Wikidata; Q54853734
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12