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Generation of two Duchenne muscular dystrophy patient-specific induced pluripotent stem cell lines DMD02 and DMD03 (MUNIi001-A and MUNIi003-A)

S. Jelinkova, L. Markova, M. Pesl, I. Valáškova, E. Makaturová, L. Jurikova, P. Vondracek, A. Lacampagne, P. Dvorak, AC. Meli, V. Rotrekl,

. 2019 ; 40 (-) : 101562. [pub] 20190909

Language English Country Great Britain

Document type Journal Article, Research Support, Non-U.S. Gov't

Persistent link   https://www.medvik.cz/link/bmc20023659

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.

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$a Duchenne muscular dystrophy (DMD) affects 1:3500-5000 newborn boys and manifests with progressive skeletal muscle wasting, respiratory failure and eventual heart failure. Symptoms show different onset from patients' childhood to the second decade of age. We reprogrammed fibroblasts from two independent DMD patients with a complete loss of dystrophin expression, carrying deletions of exons 45-50 and 48-50. The resulting hiPSCs show expression of pluripotency markers (NANOG, OCT4, SSEA4), differentiation capacity into all three germ layers, normal karyotype, genetic identity to the originating parental fibroblasts and the patient-specific dystrophin mutation.
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$a Markova, Lenka $u Department of Biology, Faculty of Medicine, Masaryk University, Brno 625 00, Czech Republic.
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$a Pesl, Martin $u Department of Biology, Faculty of Medicine, Masaryk University, Brno 625 00, Czech Republic; International Clinical Research Center ICRC, St. Anne's University Hospital Brno, Brno 602 00, Czech Republic.
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$a Valáškova, Iveta $u Department of Biology, Faculty of Medicine, Masaryk University, Brno 625 00, Czech Republic; Department of Clinical Genetics, University hospital Brno, Brno 613 00, Czech Republic.
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$a Makaturová, Eva $u Department of Clinical Genetics, University hospital Brno, Brno 613 00, Czech Republic.
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$a Jurikova, Lenka $u Department of Pediatric Neurology, Faculty of Medicine, Masaryk University, Brno 625 00, Czech Republic.
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$a Vondracek, Petr $u Department of Biology, Faculty of Medicine, Masaryk University, Brno 625 00, Czech Republic; Department of Pediatric Neurology, Faculty of Medicine, Masaryk University, Brno 625 00, Czech Republic.
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$a Lacampagne, Alain $u PhyMedExp, INSERM, University of Montpellier, CNRS, Montpellier 342 95, France.
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$a Dvorak, Petr $u Department of Biology, Faculty of Medicine, Masaryk University, Brno 625 00, Czech Republic; International Clinical Research Center ICRC, St. Anne's University Hospital Brno, Brno 602 00, Czech Republic.
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$a Meli, Albano C $u Department of Biology, Faculty of Medicine, Masaryk University, Brno 625 00, Czech Republic; PhyMedExp, INSERM, University of Montpellier, CNRS, Montpellier 342 95, France.
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$a Rotrekl, Vladimir $u 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: vrotrekl@med.muni.cz.
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