Generation of two Duchenne muscular dystrophy patient-specific induced pluripotent stem cell lines DMD02 and DMD03 (MUNIi001-A and MUNIi003-A)
| Autor: | Martin Pešl, Lenka Jurikova, Eva Makaturová, Vladimír Rotrekl, Iveta Valášková, Petr Dvorak, Lenka Marková, Petr Vondráček, Alain Lacampagne, Šárka Jelínková, Albano C. Meli |
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| Přispěvatelé: | Masaryk University [Brno] (MUNI), Faculty of Medicine [Brno] (MED / MUNI), International Clinical Research Center ICRC, St. Anne’s University Hospital [Brno], Department of Clinical Genetics, University hospital Brno, Brno 613 00, Czech Republic, Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), International Clinical Research Center ICRC, St. Anne's University Hospital Brno, Brno 602 00, Czech Republic, Department of Biology [Brno] (MED / MUNI), Masaryk University [Brno] (MUNI)-Masaryk University [Brno] (MUNI), MORNET, Dominique, Masaryk University and University Hospital Brno, Department of Pediatric Neurology, Faculty of Medicine, Masaryk University, Brno 625 00, Czech Republic |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Male
0301 basic medicine Homeobox protein NANOG musculoskeletal diseases Adolescent Duchenne muscular dystrophy [SDV]Life Sciences [q-bio] Induced Pluripotent Stem Cells Germ layer medicine.disease_cause Cell Line Dystrophin 03 medical and health sciences 0302 clinical medicine medicine Humans Child Induced pluripotent stem cell lcsh:QH301-705.5 ComputingMilieux_MISCELLANEOUS Sequence Deletion Mutation biology Skeletal muscle Cell Differentiation Exons Cell Biology General Medicine medicine.disease Muscular Dystrophy Duchenne [SDV] Life Sciences [q-bio] 030104 developmental biology medicine.anatomical_structure lcsh:Biology (General) Heart failure Cancer research biology.protein pluripotent stem cell lines Octamer Transcription Factor-3 030217 neurology & neurosurgery Developmental Biology |
| Zdroj: | STEM CELL RESEARCH Stem Cell Research Stem Cell Research, 2019, 40, pp.101562. ⟨10.1016/j.scr.2019.101562⟩ Stem Cell Research, Vol 40, Iss, Pp-(2019) Stem Cell Research, Elsevier, 2019, 40, pp.101562. ⟨10.1016/j.scr.2019.101562⟩ |
| ISSN: | 1876-7753 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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