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Cellosaurus GM25993 (CVCL_HL29)

[Text version]
Cell line name GM25993
Accession CVCL_HL29
Resource Identification Initiative To cite this cell line use: GM25993 (RRID:CVCL_HL29)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12403; TTN; Simple; c.39893-1G>A (IVS192-1G>A) (c.37112-1G>A, IVS191-1G>A); ClinVar=VCV000202368; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM25993).
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 Female
Age at sampling 71Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25993
Encyclopedic resources Wikidata; Q54854058
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number13