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◆ Stem cell research2026-08-11

Generation and characterization of three human induced pluripotent stem cell lines from patients with Duchenne muscular dystrophy.

Hamel Mahiou, Benjamin Marande, Lina El Kassar, Matthieu Lejars, Hassan Hayat, Christelle Kabore, Laura Brulle-Soumare, Pierre Joanne, Onnik Agbulut, Nejette Lallouche, Karim Wahbi, Teresinha Evangelista, Myriam Mederic, Sandrine Baghdoyan, Céline Bruge, Xavier Nissan, Karine Giraud-Triboult, Quentin Miagoux

原始摘要(英文原文)· Original 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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Generation and characterization of three human induced pluripotent stem cell lines from patients with Duchenne muscular dystrophy. — 科研速览 Science Skim