Generation of two Duchenne muscular dystrophy patient-specific induced pluripotent stem cell lines DMD02 and DMD03 (MUNIi001-A and MUNIi003-A).
Stem Cell Research. 2019-10-01; 40: 101562
DOI: 10.1016/j.scr.2019.101562
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Jelinkova S(1), Markova L(2), Pesl M(1), Valáškova I(3), Makaturová E(4), Jurikova L(5), Vondracek P(6), Lacampagne A(7), Dvorak P(1), Meli AC(8), Rotrekl V(9).
Author information:
(1)Department of Biology, Faculty of Medicine, Masaryk University, Brno 625 00,
Czech Republic; International Clinical Research Center ICRC, St. Anne’s University Hospital Brno, Brno 602 00, Czech Republic.
(2)Department of Biology, Faculty of Medicine, Masaryk University, Brno 625 00, Czech Republic.
(3)Department of Biology, Faculty of Medicine, Masaryk University, Brno 625 00, Czech Republic; Department of Clinical Genetics, University hospital Brno, Brno 613 00, Czech Republic.
(4)Department of Clinical Genetics, University hospital Brno, Brno 613 00, Czech Republic.
(5)Department of Pediatric Neurology, Faculty of Medicine, Masaryk University, Brno 625 00, Czech Republic.
(6)Department of Biology, Faculty of Medicine, Masaryk University, Brno 625 00, Czech Republic; Department of Pediatric Neurology, Faculty of Medicine, Masaryk University, Brno 625 00, Czech Republic.
(7)PhyMedExp, INSERM, University of Montpellier, CNRS, Montpellier 342 95, France.
(8)Department of Biology, Faculty of Medicine, Masaryk University, Brno 625 00, Czech Republic; PhyMedExp, INSERM, University of Montpellier, CNRS, Montpellier 342 95, France.
(9)Department of Biology, Faculty of Medicine, Masaryk University, Brno 625 00, Czech Republic; International Clinical Research Center ICRC, St. Anne’s University Hospital Brno, Brno 602 00, Czech Republic. Electronic address: .
Duchenne muscular dystrophy (DMD) affects 1:3500-5000 newborn boys and manifests
with progressive skeletal muscle wasting, respiratory failure and eventual heart
failure. Symptoms show different onset from patients’ childhood to the second
decade of age. We reprogrammed fibroblasts from two independent DMD patients with
a complete loss of dystrophin expression, carrying deletions of exons 45-50 and
48-50. The resulting hiPSCs show expression of pluripotency markers (NANOG, OCT4,
SSEA4), differentiation capacity into all three germ layers, normal karyotype,
genetic identity to the originating parental fibroblasts and the patient-specific
dystrophin mutation.
Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.