Generation and characterization of three human induced pluripotent stem cell lines from patients with glycogen storage disease type II

Glycogen storage disease type II (GSDII), or Pompe disease, is a rare autosomal recessive metabolic disorder characterized by the deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). GAA deficiency results in the progressive accumulation of glycogen in cardiac and skeletal muscle tissues, leading to cellular dysfunction and clinical manifestations, including muscle weakness, respiratory difficulties, and cardiomyopathy. In this study, we report the derivation of three induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of GSDII patients. These patient-derived iPSC lines can be used to study pathological features of the disease and evaluate therapeutic strategies for Pompe disease.

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Publication Details

Journal
Stem Cell Research
Published
2025-08-29
DOI
https://doi.org/10.1016/j.scr.2025.103823
Citations
1
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
1.16
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article

Generation and characterization of three human induced pluripotent stem cell lines from patients with glycogen storage disease type II

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1 citations
Stem Cell Research
Lysosomal Storage Disorders Research
1.16
article

Generation and characterization of three human induced pluripotent stem cell lines from patients with glycogen storage disease type II

Quentin Miagoux, Lucile Hoch, Teresinha Evangelista, Lina El Kassar, Karim Wahbi, P Frágner, Xavier Nissan, Karine Giraud-Triboult, Laura Brulle-Soumare, Matthieu Lejars, Christelle Kabore, Benjamin Marande, Nejette Lallouche
article en
1 citations

Abstract

Glycogen storage disease type II (GSDII), or Pompe disease, is a rare autosomal recessive metabolic disorder characterized by the deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). GAA deficiency results in the progressive accumulation of glycogen in cardiac and skeletal muscle tissues, leading to cellular dysfunction and clinical manifestations, including muscle weakness, respiratory difficulties, and cardiomyopathy. In this study, we report the derivation of three induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of GSDII patients. These patient-derived iPSC lines can be used to study pathological features of the disease and evaluate therapeutic strategies for Pompe disease.

Stem Cell ResearchVol. 88
Délégation Paris 5 (FR), Inserm (FR), Université Paris-Est Créteil (FR), Université Paris Cité (FR), Université Paris-Saclay (FR), Cebu Technological University (PH), Sorbonne Université (FR), Hôpital Cochin (FR), Assistance Publique – Hôpitaux de Paris (FR), Centre Hospitalier Sud Francilien (FR), Institut de Myologie (FR), Pitié-Salpêtrière Hospital (FR), Institut Mondor de Recherche Biomédicale (FR), Université d'Évry Val-d'Essonne (FR)
Zero hunger
Openalex Percentile: Top 18%
Lysosomal Storage Disorders Research
1.16
DOIOpen Access PDFOpenAlex
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