Generation and characterization of three human induced pluripotent stem cell lines from patients with Duchenne muscular dystrophy
Abstract
Duchenne muscular dystrophy (DMD) is a rare X-linked recessive disorder caused by mutations in the DMD gene, resulting in the absence of functional dystrophin. The loss of dystrophin disrupts the dystrophin-associated protein complex (DAPC), leading to progressive degeneration of skeletal and cardiac muscles. Clinically, DMD is characterized by proximal muscle weakness, respiratory insufficiency, and dilated cardiomyopathy. Here, we report the generation of three induced pluripotent stem cell (iPSC) lines reprogrammed from peripheral blood mononuclear cells (PBMCs) of patients with DMD. These patient-derived iPSC lines constitute a relevant human cellular model for studying disease-associated phenotypes and evaluating potential therapeutic strategies.
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BibTeX
@article{mahiou2026generation,
title = {{Generation and characterization of three human induced pluripotent stem cell lines from patients with Duchenne muscular dystrophy}},
author = {Hamel Mahiou and Benjamin Marande and Lina El Kassar and Matthieu Lejars and Hassan Hayat and Christelle Kabore and Laura Brulle-Soumare and Pierre Joanne and Onnik Agbulut and Nejette Lallouche and Karim Wahbi and Teresinha Evangelista and Myriam Mederic and Sandrine Baghdoyan and Céline Bruge and Xavier Nissan and Karine Giraud-Triboult and Quentin Miagoux},
journal = {Stem Cell Research},
year = {2026},
month = aug,
doi = {10.1016/j.scr.2026.104074},
url = {https://hal.science/hal-05784443v1},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Generation and characterization of three human induced pluripotent stem cell lines from patients with Duchenne muscular dystrophy
AU - Hamel Mahiou
AU - Benjamin Marande
AU - Lina El Kassar
AU - Matthieu Lejars
AU - Hassan Hayat
AU - Christelle Kabore
AU - Laura Brulle-Soumare
AU - Pierre Joanne
AU - Onnik Agbulut
AU - Nejette Lallouche
AU - Karim Wahbi
AU - Teresinha Evangelista
AU - Myriam Mederic
AU - Sandrine Baghdoyan
AU - Céline Bruge
AU - Xavier Nissan
AU - Karine Giraud-Triboult
AU - Quentin Miagoux
PY - 2026
DA - 2026/08/11
JO - Stem Cell Research
DO - 10.1016/j.scr.2026.104074
UR - https://hal.science/hal-05784443v1
AB - Duchenne muscular dystrophy (DMD) is a rare X-linked recessive disorder caused by mutations in the DMD gene, resulting in the absence of functional dystrophin. The loss of dystrophin disrupts the dystrophin-associated protein complex (DAPC), leading to progressive degeneration of skeletal and cardiac muscles. Clinically, DMD is characterized by proximal muscle weakness, respiratory insufficiency, and dilated cardiomyopathy. Here, we report the generation of three induced pluripotent stem cell (iPSC) lines reprogrammed from peripheral blood mononuclear cells (PBMCs) of patients with DMD. These patient-derived iPSC lines constitute a relevant human cellular model for studying disease-associated phenotypes and evaluating potential therapeutic strategies.
SN - 1876-7753
ER -