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Cellosaurus DYSF4 (CVCL_VG59)

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Cell line name DYSF4
Synonyms 578
Accession CVCL_VG59
Resource Identification Initiative To cite this cell line use: DYSF4 (RRID:CVCL_VG59)
Comments Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
Genetic integration: Method=Transduction; Gene=MGI; MGI:88357; Cdk4.
Genetic integration: Method=Transduction; Gene=UniProtKB; P00552; Klebsiella pneumoniae transposon Tn5 neo.
Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; Streptomyces alboniger pac (PuroR).
Derived from site: In situ; Muscle, triceps brachii; UBERON=UBERON_0001509.
Cell type: Myoblast; CL=CL_0000056.
Sequence variations
  • Mutation; HGNC; HGNC:3097; DYSF; Simple; c.2864+2T>A (c.2810+2T>A); ClinVar=VCV000498750; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=22367358).
Disease Limb-girdle muscular dystrophy type 2B (NCIt: C142080)
Dysferlin-related limb-girdle muscular dystrophy R2 (ORDO: Orphanet_268)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 25Y
Category Telomerase immortalized cell line
Web pages Provider; Jain Foundation; -; https://www.jain-foundation.org/research/access-resources/research-tools/cell-lines/
Publications

PubMed=22367358; DOI=10.1371/currents.RRN1298; PMCID=PMC3274833
Susanne Philippi, Anne Bigot, Andreas Marg, Vincent Mouly, Simone Spuler, Ute Zacharias;
Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathy.
PLoS Curr. 4:RRN1298.1-RRN1298.8(2012)

Cross-references
Encyclopedic resources Wikidata; Q54831616
Entry history
Entry creation14-May-2018
Last entry update14-Aug-2025
Version number14