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

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Authors	JELÍNKOVÁ Šárka MARKOVÁ Lenka PEŠL Martin VALÁŠKOVÁ Iveta MAKATUROVÁ Eva JUŘÍKOVÁ Lenka VONDRÁČEK Petr LACAMPAGNE Alain DVOŘÁK Petr MELI Albano ROTREKL Vladimír
Year of publication	2019
Type	Article in Periodical
Magazine / Source	STEM CELL RESEARCH
MU Faculty or unit	Faculty of Medicine
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	1-s2.0-S1873506119301928-main.txt stem_cell_research.pdf
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.
Related projects:	Přeprogramování somatických buněk darovaných pacienty s dědičnou Duchennovou svalovou dystrofií do kardiomyocytů - nahlédnutí do molekulární podstaty patologických dějů u dilatační kardiomyopatie nemocných DMD. CEITEC 2020