ID GM16337 AC CVCL_UD09 DR Coriell; GM16337 DR Wikidata; Q93844475 RX PubMed=28161093; CC Sequence variation: Gene deletion; HGNC; HGNC:50800; DUX4; Zygosity=Unspecified; Note=D4Z4 repeat contraction (to 5 repeats) (PubMed=28161093). CC Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). CC Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. DI NCIt; C172704; Facioscapulohumeral muscular dystrophy 1 DI ORDO; Orphanet_269; Facioscapulohumeral dystrophy OX NCBI_TaxID=9606; ! Homo sapiens (Human) SX Female AG 31Y CA Transformed cell line DT Created: 13-11-18; Last updated: 19-12-24; Version: 7 // RX PubMed=28161093; DOI=10.1016/j.nmd.2016.12.007; PMCID=PMC5815870; RA Jones T.I., Himeda C.L., Perez D.P., Jones P.L.; RT "Large family cohorts of lymphoblastoid cells provide a new cellular RT model for investigating facioscapulohumeral muscular dystrophy."; RL Neuromuscul. Disord. 27:221-238(2017). //