ID   DYSF3
AC   CVCL_VG58
SY   379
DR   Wikidata; Q54831615
RX   PubMed=22367358;
WW   https://www.jain-foundation.org/research/access-resources/research-tools/cell-lines/
CC   Sequence variation: Mutation; HGNC; HGNC:3097; DYSF; Simple; c.*107T>A; ClinVar=VCV000290170; Zygosity=Heterozygous; Note=3'UTR mutation (PubMed=22367358).
CC   Sequence variation: Mutation; HGNC; HGNC:3097; DYSF; Simple; p.Ser483Ter (c.1448C>A) (p.Ser515Ter, c.1544C>A); ClinVar=VCV000554057; Zygosity=Heterozygous (PubMed=22367358).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Genetic integration: Method=Transduction; Gene=MGI; MGI:88357; Cdk4.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P00552; Transposon Tn5 neo.
CC   Derived from site: In situ; Muscle, vastus lateralis; UBERON=UBERON_0001379.
CC   Cell type: Myoblast; CL=CL_0000056.
DI   NCIt; C142080; Limb-girdle muscular dystrophy type 2B
DI   ORDO; Orphanet_268; Dysferlin-related limb-girdle muscular dystrophy R2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   43Y
CA   Telomerase immortalized cell line
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 13
//
RX   PubMed=22367358; DOI=10.1371/currents.RRN1298; PMCID=PMC3274833;
RA   Philippi S., Bigot A., Marg A., Mouly V., Spuler S., Zacharias U.;
RT   "Dysferlin-deficient immortalized human myoblasts and myotubes as a
RT   useful tool to study dysferlinopathy.";
RL   PLoS Curr. 4:RRN1298.1-RRN1298.8(2012).
//