ID   OPMDCl2
AC   CVCL_6B29
DR   Wikidata; Q54936486
RX   PubMed=22040608;
CC   Sequence variation: Mutation; HGNC; HGNC:8565; PABPN1; Simple; p.Ala11_Gly12insAlaAla (c.21_26dup) (c.18_23dupGGCGGC) ((GCG)9); ClinVar=VCV002437738; 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; P00552; Transposon Tn5 neo.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
CC   Derived from site: In situ; Cricopharyngeal muscle; UBERON=UBERON_0010928.
CC   Cell type: Myoblast; CL=CL_0000056.
DI   NCIt; C84942; Oculopharyngeal muscular dystrophy
DI   ORDO; Orphanet_270; Oculopharyngeal muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   60Y
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).
//