Aug 2026· Stem Cell Research· Vol 95, pp.
104074
· 0 citations· 2 references
Medicine
TL;DR
Three induced pluripotent stem cell lines reprogrammed from peripheral blood mononuclear cells (PBMCs) of patients with DMD constitute a relevant human cellular model for studying disease-associated phenotypes and evaluating potential therapeutic strategies.
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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This patient-specific iPSC line provides a valuable resource for generating choroid plexus organoids and neurons to investigate disease mechanisms and develop therapeutic strategies to investigate disease mechanisms and develop therapeutic strategies.
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