ID   GM25477
AC   CVCL_D2Z0
DR   Coriell; GM25477
DR   Wikidata; Q127380892
CC   Population: Caucasian and Native North American.
CC   Sequence variation: Mutation; HGNC; HGNC:8565; PABPN1; Simple; p.Ala11_Gly12insAlaAla (c.21_26dup) (c.18_23dupGGCGGC) ((GCG)9); ClinVar=VCV002437738; Zygosity=Heterozygous (Coriell=GM25477).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84942; Oculopharyngeal muscular dystrophy
DI   ORDO; Orphanet_270; Oculopharyngeal muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   64Y
CA   Transformed cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
//