ID   FSHDCl17
AC   CVCL_6B27
DR   Wikidata; Q54835204
RX   PubMed=22040608;
CC   Sequence variation: Gene deletion; HGNC; HGNC:50800; DUX4; Zygosity=Unspecified; Note=D4Z4 repeat contraction (to 2 repeats) (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; Subscapularis muscle; UBERON=UBERON_0001129.
CC   Cell type: Myoblast; CL=CL_0000056.
DI   NCIt; C172704; Facioscapulohumeral muscular dystrophy 1
DI   ORDO; Orphanet_269; Facioscapulohumeral dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   27Y
CA   Telomerase immortalized cell line
DT   Created: 23-02-16; Last updated: 10-04-25; Version: 14
//
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).
//