Publication details

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

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
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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