ID   DYSF2
AC   CVCL_VG57
SY   107
DR   Wikidata; Q54831614
RX   PubMed=22367358;
WW   Provider; Jain Foundation; -; https://www.jain-foundation.org/research/access-resources/research-tools/cell-lines/
CC   Sequence variation: Mutation; HGNC; HGNC:3097; DYSF; Simple; p.Gly299Arg (c.895G>A) (p.Gly331Arg, c.991G>A); ClinVar=VCV000006681; Zygosity=Heterozygous (PubMed=22367358).
CC   Sequence variation: Mutation; HGNC; HGNC:3097; DYSF; Simple; c.951+1delG (c.855+1delG); ClinVar=VCV000006684; Zygosity=Heterozygous; Note=Causes mRNA decay (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   Male
AG   46Y
CA   Telomerase immortalized cell line
DT   Created: 14-05-18; Last updated: 10-04-25; Version: 12
//
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).
//