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Cellosaurus GM26124 (CVCL_D2ZD)

[Text version]
Cell line name GM26124
Accession CVCL_D2ZD
Resource Identification Initiative To cite this cell line use: GM26124 (RRID:CVCL_D2ZD)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3756; FLNC; Simple; p.Ser868Gly (c.2602A>G); ClinVar=VCV000649876; Zygosity=Heterozygous (Coriell=GM26124).
  • Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Pro2195Leu (c.6584C>T); ClinVar=VCV000590572; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM26124).
  • Mutation; HGNC; HGNC:3148; TYMP; Simple; c.929-6_929-3delCCGC; ClinVar=VCV000215324; Zygosity=Heterozygous (Coriell=GM26124).
Disease Autosomal dominant congenital myopathy-1A (NCIt: C202545)
Multiminicore myopathy (ORDO: Orphanet_598)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 12Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26124
Encyclopedic resources Wikidata; Q127380908
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3