Generation of two Duchenne muscular dystrophy patient-specific induced pluripotent stem cell lines DMD02 and DMD03 (MUNIi001-A and MUNIi003-A)
Language English Country England, Great Britain Media print-electronic
Document type Journal Article, Research Support, Non-U.S. Gov't
PubMed
31526943
DOI
10.1016/j.scr.2019.101562
PII: S1873-5061(19)30192-8
Knihovny.cz E-resources
- MeSH
- Cell Differentiation MeSH
- Cell Line cytology metabolism MeSH
- Child MeSH
- Muscular Dystrophy, Duchenne genetics metabolism physiopathology MeSH
- Dystrophin genetics metabolism MeSH
- Exons MeSH
- Induced Pluripotent Stem Cells cytology metabolism MeSH
- Humans MeSH
- Adolescent MeSH
- Octamer Transcription Factor-3 genetics metabolism MeSH
- Sequence Deletion MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Dystrophin MeSH
- Octamer Transcription Factor-3 MeSH
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.
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
Department of Pediatric Neurology Faculty of Medicine Masaryk University Brno 625 00 Czech Republic
PhyMedExp INSERM University of Montpellier CNRS Montpellier 342 95 France
References provided by Crossref.org
DMD Pluripotent Stem Cell Derived Cardiac Cells Recapitulate in vitro Human Cardiac Pathophysiology
