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Publication details
Generation of two Duchenne muscular dystrophy patient-specific induced pluripotent stem cell lines DMD02 and DMD03 (MUNIi001-A and MUNIi003-A)
Authors | |
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Year of publication | 2019 |
Type | Article in Periodical |
Magazine / Source | STEM CELL RESEARCH |
MU Faculty or unit | |
Citation | |
Web | https://www.sciencedirect.com/science/article/pii/S1873506119301928 |
Doi | http://dx.doi.org/10.1016/j.scr.2019.101562 |
Keywords | Duchenne muscular dystrophy; pluripotent stem cell lines |
Attached files | |
Description | 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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