ID   CMDCl12
AC   CVCL_6B25
DR   Wikidata; Q54813746
RX   PubMed=22040608;
CC   Sequence variation: Mutation; HGNC; HGNC:17089; SYNE1; Simple; c.2345G>T; Zygosity=Unspecified (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; P00552; Transposon Tn5 neo.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
CC   Derived from site: In situ; Muscle, paravertebral; UBERON=UBERON_0002462.
CC   Cell type: Myoblast; CL=CL_0000056.
DI   NCIt; C84910; Muscular dystrophy
DI   ORDO; Orphanet_261; Emery-Dreifuss muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   16Y
CA   Telomerase immortalized cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 13
//
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).
//