ID   LGMD2Cl11
AC   CVCL_6B28
DR   Wikidata; Q54902462
RX   PubMed=22040608;
CC   Sequence variation: Mutation; HGNC; HGNC:3097; DYSF; Simple; c.*107T>A; ClinVar=VCV000290170; Zygosity=Heterozygous; Note=3'UTR mutation (PubMed=22040608).
CC   Sequence variation: Mutation; HGNC; HGNC:3097; DYSF; Simple; p.Ser483Ter (c.1448C>A) (p.Ser515Ter, c.1544C>A); ClinVar=VCV000554057; Zygosity=Heterozygous (PubMed=22040608).
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; Thigh, quadriceps skeletal muscle; UBERON=UBERON_0004498.
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   Sex unspecified
AG   40Y
CA   Telomerase immortalized cell line
DT   Created: 23-02-16; Last updated: 10-04-25; Version: 15
//
RX   PubMed=22040608; DOI=10.1186/2044-5040-1-34; PMCID=PMC3235972;
RA   Mamchaoui K., Trollet C., Bigot A., Negroni E., Chaouch S., Wolff A.,
RA   Kandalla P.K., Marie S., Di Santo J.P., St Guily J.L., Muntoni F.,
RA   Kim J., Philippi S., Spuler S., Levy N., Blumen S.C., Voit T.,
RA   Wright W.E., Aamiri A., Butler-Browne G.S., Mouly V.;
RT   "Immortalized pathological human myoblasts: towards a universal tool
RT   for the study of neuromuscular disorders.";
RL   Skelet. Muscle 1:34.1-34.11(2011).
//