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Cellosaurus GM23439 (CVCL_Y718)

[Text version]
Cell line name GM23439
Accession CVCL_Y718
Resource Identification Initiative To cite this cell line use: GM23439 (RRID:CVCL_Y718)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Donor information: At sampling donor was asymptomatic for ornithine carbamoyltransferase deficiency.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8512; OTC; Simple; p.Gln279Ter (c.835C>T); ClinVar=VCV000097341; Zygosity=Heterozygous (Coriell=GM23439).
Disease Ornithine carbamoyltransferase deficiency disease (NCIt: C84957)
Ornithine transcarbamylase deficiency (ORDO: Orphanet_664)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 8Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23439
Encyclopedic resources Wikidata; Q54853081
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number14