ID   GM16424
AC   CVCL_UT78
DR   Coriell; GM16424
DR   Wikidata; Q93845578
RX   PubMed=28161093;
CC   Sequence variation: Gene deletion; HGNC; HGNC:50800; DUX4; Zygosity=Unspecified; Note=D4Z4 repeat contraction (to 9 repeats) (PubMed=28161093).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: At sampling donor was not affected with facioscapulohumeral muscular dystrophy but at risk for disease.
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   40Y
CA   Transformed cell line
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 8
//
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).
//