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Cellosaurus GM23455 (CVCL_Y720)

[Text version]
Cell line name GM23455
Accession CVCL_Y720
Resource Identification Initiative To cite this cell line use: GM23455 (RRID:CVCL_Y720)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8512; OTC; Simple; p.Pro347Ser (c.1039C>T); ClinVar=VCV002138547; Zygosity=Hemizygous (Coriell=GM23455).
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 Male
Age at sampling 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23455
Encyclopedic resources Wikidata; Q54853090
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number13