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Cellosaurus GM16864 (CVCL_6B22)

[Text version]
Cell line name GM16864
Accession CVCL_6B22
Resource Identification Initiative To cite this cell line use: GM16864 (RRID:CVCL_6B22)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3331; EMD; Simple; p.Gln219Trpfs*20 (c.650_654dupTGGGC) (1712-1713insTGGGC); ClinVar=VCV000179133; Zygosity=Hemizygous (Coriell=GM16864).
Disease Emery-Dreifuss muscular dystrophy 1, X-linked (NCIt: C168730)
X-linked Emery-Dreifuss muscular dystrophy (ORDO: Orphanet_98863)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 57Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM16864
Cell line databases/resources CLO; CLO_0018131
Encyclopedic resources Wikidata; Q54848791
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number12