Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients


Facioscapulohumeral dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array on chromosome 4q resulting in sporadic misexpression of the transcription factor DUX4 in skeletal muscle tissue. In ~4% of families, de novo D4Z4 contractions occur after fertilization resulting in somatic mosaicism with control and FSHD1 cell populations present within the same patient. Reprogramming of mosaic fibroblasts from two FSHD1 patients into human induced pluripotent stem cells (hiPSCs) generated genetically matched control and FSHD1 hiPSC lines. All hiPSC lines contained a normal karyotype, expressed pluripotency genes and differentiated into cells from the three germ layers. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors van der Wal E, den Hamer B, van der Vliet PJ, Tok M, Brands T, Eussen B, Lemmers RJLF, Freund C, de Klein A, Buijsen RAM, van Roon-Mom WMC, Tawil R, van der Maarel SM, de Greef JC
Journal Stem cell research
Publication Date 2019 Oct;40:101560
PubMed 31518905
DOI 10.1016/j.scr.2019.101560

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