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Cellosaurus GM23421 (CVCL_BX02)

[Text version]
Cell line name GM23421
Accession CVCL_BX02
Resource Identification Initiative To cite this cell line use: GM23421 (RRID:CVCL_BX02)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Arg249Gln (c.746G>A); ClinVar=VCV000066931; Zygosity=Unspecified (Coriell=GM23421).
Disease Emery-Dreifuss muscular dystrophy 2, autosomal dominant (NCIt: C126745)
Autosomal dominant Emery-Dreifuss muscular dystrophy (ORDO: Orphanet_98853)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 34Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23421
Encyclopedic resources Wikidata; Q54853065
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number11