ID   GM17869
AC   CVCL_H161
DR   CLO; CLO_0016460
DR   Coriell; GM17869
DR   Wikidata; Q54849294
RX   CelloPub=CLPUB00573;
CC   Sequence variation: Gene deletion; HGNC; HGNC:50800; DUX4; Zygosity=Heterozygous; Note=D4Z4 repeat contraction (to 5 repeats) (Coriell=GM17869).
CC   Discontinued: Coriell; GM17869; probable.
CC   Derived from site: In situ; Skeletal muscle; UBERON=UBERON_0001134.
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)
OI   CVCL_H160 ! GM17868
SX   Female
AG   21Y
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 15
//
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.
//