Cellosaurus cell line DYSF3 (CVCL

Cellosaurus DYSF3 (CVCL_VG58)

Cross-references
Cell line name	DYSF3
Synonyms	379
Accession	CVCL_VG58
Resource Identification Initiative	To cite this cell line use: DYSF3 (RRID:CVCL_VG58)
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.*107T>A; ClinVar=VCV000290170; Zygosity=Heterozygous; Note=3'UTR mutation (PubMed=22367358). Mutation; HGNC; HGNC:3097; DYSF; Simple; p.Ser483Ter (c.1448C>A) (p.Ser515Ter, c.1544C>A); ClinVar=VCV000554057; 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	Female
Age at sampling	43Y
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)
Encyclopedic resources	Wikidata; Q54831615
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	13