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Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients.
van der Wal, Erik; den Hamer, Bianca; van der Vliet, Patrick J; Tok, Merve; Brands, Tom; Eussen, Bert; Lemmers, Richard J L F; Freund, Christian; de Klein, Annelies; Buijsen, Ronald A M; van Roon-Mom, Willeke M C; Tawil, Rabi; van der Maarel, Silvère M; de Greef, Jessica C.
Affiliation
  • van der Wal E; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • den Hamer B; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • van der Vliet PJ; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • Tok M; LUMC hiPSC Core Facility, Department of Cell and Chemical Biology, LUMC, Leiden, the Netherlands.
  • Brands T; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.
  • Eussen B; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.
  • Lemmers RJLF; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • Freund C; LUMC hiPSC Core Facility, Department of Anatomy and Embryology, LUMC, Leiden, the Netherlands.
  • de Klein A; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.
  • Buijsen RAM; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • van Roon-Mom WMC; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • Tawil R; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.
  • van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • de Greef JC; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands. Electronic address: j.c.de_greef@lumc.nl.
Stem Cell Res ; 40: 101560, 2019 10.
Article in En | MEDLINE | ID: mdl-31518905
ABSTRACT
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cell Line / Muscular Dystrophy, Facioscapulohumeral / Induced Pluripotent Stem Cells Limits: Humans / Male / Middle aged Language: En Journal: Stem Cell Res Year: 2019 Type: Article Affiliation country: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cell Line / Muscular Dystrophy, Facioscapulohumeral / Induced Pluripotent Stem Cells Limits: Humans / Male / Middle aged Language: En Journal: Stem Cell Res Year: 2019 Type: Article Affiliation country: Netherlands