ID   GM17939
AC   CVCL_F205
DR   CLO; CLO_0016281
DR   Coriell; GM17939
DR   Wikidata; Q54849339
RX   CelloPub=CLPUB00573;
CC   Sequence variation: Gene deletion; HGNC; HGNC:50800; DUX4; Zygosity=Heterozygous; Note=D4Z4 repeat contraction (to 3 repeats) (Coriell=GM17939).
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)
OI   CVCL_F206 ! GM17940
SX   Male
AG   13Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 19-12-24; Version: 16
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RX   CelloPub=CLPUB00573;
RA   Hampson A.;
RT   "Transcriptional analysis of the human D4Z4 and mouse Dux arrays.";
RL   Thesis PhD (2012); University of Nottingham; Nottingham; United Kingdom.
//