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Cellosaurus GM24268 (CVCL_AZ49)

[Text version]
Cell line name GM24268
Accession CVCL_AZ49
Resource Identification Initiative To cite this cell line use: GM24268 (RRID:CVCL_AZ49)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2974; DNM2; Simple; p.Glu368Lys (c.1102G>A); ClinVar=VCV000007282; Zygosity=Heterozygous (Coriell=GM24268).
Disease Centronuclear myopathy 1 (NCIt: C126689)
Autosomal dominant centronuclear myopathy (ORDO: Orphanet_169189)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 21Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM24268
Encyclopedic resources Wikidata; Q54853681
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12