Cellosaurus logo
expasy logo

Cellosaurus GM23667 (CVCL_Y738)

[Text version]
Cell line name GM23667
Accession CVCL_Y738
Resource Identification Initiative To cite this cell line use: GM23667 (RRID:CVCL_Y738)
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; c.216+1G>T (IVS2+1G>T); ClinVar=VCV000097135; Zygosity=Hemizygous; Note=Splice donor mutation (Coriell=GM23667).
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 15Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23667
Encyclopedic resources Wikidata; Q54853211
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number15