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Cellosaurus DYSF2 (CVCL_VG57)

[Text version]
Cell line name DYSF2
Synonyms 107
Accession CVCL_VG57
Resource Identification Initiative To cite this cell line use: DYSF2 (RRID:CVCL_VG57)
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; P13249; S.alboniger pac (PuroR).
Genetic integration: Method=Transduction; Gene=UniProtKB; P00552; Transposon Tn5 neo.
Derived from site: In situ; Muscle, vastus lateralis; UBERON=UBERON_0001379.
Cell type: Myoblast; CL=CL_0000056.
Sequence variations
  • Mutation; HGNC; HGNC:3097; DYSF; Simple; c.951+1delG (c.855+1delG); ClinVar=VCV000006684; Zygosity=Heterozygous; Note=Causes mRNA decay (PubMed=22367358).
  • Mutation; HGNC; HGNC:3097; DYSF; Simple; p.Gly299Arg (c.895G>A) (p.Gly331Arg, c.991G>A); ClinVar=VCV000006681; Zygosity=Heterozygous (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 Male
Age at sampling 46Y
Category Telomerase immortalized cell line
Web pages https://www.jain-foundation.org/research/access-resources/research-tools/cell-lines/
Publications

PubMed=22367358; DOI=10.1371/currents.RRN1298; PMCID=PMC3274833
Philippi S., Bigot A., Marg A., Mouly V., Spuler S., Zacharias U.
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; Q54831614
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number11