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Cellosaurus GM26130 (CVCL_A2VL)

[Text version]
Cell line name GM26130
Accession CVCL_A2VL
Resource Identification Initiative To cite this cell line use: GM26130 (RRID:CVCL_A2VL)
Comments Population: Korean.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7577; MYH7; Simple; c.3337-4dupC (c.3337-3dupC); ClinVar=VCV000042956; Zygosity=Heterozygous (Coriell=GM26130).
  • Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Gly334Val (c.1001G>T); ClinVar=VCV000159825; Zygosity=Heterozygous (Coriell=GM26130).
  • Mutation; HGNC; HGNC:10483; RYR1; Simple; c.1186_1187delinsTC; Zygosity=Heterozygous (Coriell=GM26130).
  • Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Pro2496Arg (c.7487C>G); ClinVar=VCV000159859; Zygosity=Heterozygous (Coriell=GM26130).
  • Mutation; HGNC; HGNC:12403; TTN; Simple; p.Arg3113His (c.9338G>A); ClinVar=VCV000130688; Zygosity=Heterozygous (Coriell=GM26130).
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 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26130
Encyclopedic resources Wikidata; Q105507000
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6