ID   LUMCi011-B
AC   CVCL_XJ83
SY   LUMC0162iFSHD04; 0162-FSHD04
DR   hPSCreg; LUMCi011-B
DR   Wikidata; Q95983466
RX   PubMed=31518905;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Caucasian.
CC   Characteristics: While the patient is suffering from facioscapulohumeral muscular dystrophy 1 he is mosaic for the D4Z4 repeat contraction. The fibroblast from which this iPSC was derived bears the contraction.
CC   Sequence variation: Gene deletion; HGNC; 50800; DUX4; Zygosity=Mosaic; Note=D4Z4 repeat contraction (to 3 repeats) (PubMed=31518905).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C172704; Facioscapulohumeral muscular dystrophy 1
DI   ORDO; Orphanet_269; Facioscapulohumeral dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_XJ82 ! LUMCi011-A
SX   Male
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 8
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RX   PubMed=31518905; DOI=10.1016/j.scr.2019.101560;
RA   van der Wal E., den Hamer B., van der Vliet P.J., Tok M., Brands T.,
RA   Eussen B., Lemmers R.J.L.F., Freund C.M.A.H., de Klein A.,
RA   Buijsen R.A.M., van Roon-Mom W.M.C., Tawil R., van der Maarel S.M.,
RA   de Greef J.C.;
RT   "Generation of genetically matched hiPSC lines from two mosaic
RT   facioscapulohumeral dystrophy type 1 patients.";
RL   Stem Cell Res. 40:101560-101560(2019).
//