Cellosaurus logo
expasy logo

Cellosaurus GM25477 (CVCL_D2Z0)

[Text version]
Cell line name GM25477
Accession CVCL_D2Z0
Resource Identification Initiative To cite this cell line use: GM25477 (RRID:CVCL_D2Z0)
Comments Population: Caucasian and Native North American.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8565; PABPN1; Simple; p.Ala11_Gly12insAlaAla (c.21_26dup) (c.18_23dupGGCGGC) ((GCG)9); ClinVar=VCV002437738; Zygosity=Heterozygous (Coriell=GM25477).
Disease Oculopharyngeal muscular dystrophy (NCIt: C84942)
Oculopharyngeal muscular dystrophy (ORDO: Orphanet_270)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 64Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25477
Encyclopedic resources Wikidata; Q127380892
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3