Generation and characterization of two human induced pluripotent stem cell lines from patients with Danon disease
Year: 2026
Type: article
Abstract: Danon disease (DD) is a rare, X-linked dominant autophagic vacuolar myopathy caused by deficiency of lysosomal-associated membrane protein 2 (LAMP2) and is characterized by cardiomyopathy, skeletal myopathy, and intellectual disability. However, the underlying mechanisms remain unclear. In this study, we report the generation of two induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells of patients with DD. These lines were validated for pluripotency markers expression, genomic integrity, vector clearance, and trilineage differentiation potential. Finally, these cell lines provide a good model to study pathological features of the disease and to evaluate potential therapeutic strategies for DD.
Source: Stem Cell Research
Institutions: Inserm, Université Paris-Saclay, Institut des Cellules Souches pour le Traitement et l'Étude des Maladies Monogéniques, Université d'Évry Val-d'Essonne, Université Paris Cité, Hôpital Cochin, Institut des Maladies Génétiques Imagine, Sorbonne Université, Institut de Myologie, Pitié-Salpêtrière Hospital
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,360
Awards: G6187096383, G7212278797
OpenAlex ID: W7129012531