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Cellosaurus GM27126 (CVCL_WP11)

[Text version]
Cell line name GM27126
Accession CVCL_WP11
Resource Identification Initiative To cite this cell line use: GM27126 (RRID:CVCL_WP11)
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.Arg249Trp (c.745C>T); ClinVar=VCV000014524; Zygosity=Heterozygous (Coriell=GM27126).
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 Male
Age at sampling 10Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27126
Encyclopedic resources Wikidata; Q93933018
Entry history
Entry creation05-Jul-2019
Last entry update19-Dec-2024
Version number9