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Cellosaurus GM25475 (CVCL_D2YZ)

[Text version]
Cell line name GM25475
Accession CVCL_D2YZ
Resource Identification Initiative To cite this cell line use: GM25475 (RRID:CVCL_D2YZ)
Comments Population: Caucasian.
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.Arg92Pro (c.275G>C); ClinVar=VCV000097153; Zygosity=Hemizygous (Coriell=GM25475).
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 33Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25475
Encyclopedic resources Wikidata; Q127380891
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3