Informace o publikaci

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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JELÍNKOVÁ Šárka MARKOVÁ Lenka PEŠL Martin VALÁŠKOVÁ Iveta MAKATUROVÁ Eva JUŘÍKOVÁ Lenka VONDRÁČEK Petr LACAMPAGNE Alain DVOŘÁK Petr MELI Albano ROTREKL Vladimír

Rok publikování 2019
Druh Článek v odborném periodiku
Časopis / Zdroj STEM CELL RESEARCH
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
www https://www.sciencedirect.com/science/article/pii/S1873506119301928
Doi http://dx.doi.org/10.1016/j.scr.2019.101562
Klíčová slova Duchenne muscular dystrophy; pluripotent stem cell lines
Přiložené soubory
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.
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