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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...

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Principais autores: Matthieu Lejars, Christelle Kabore, Benjamin Marande, Laura Brulle-Soumare, Nejette Lallouche, Karim Wahbi, Edoardo Malfatti, Teresinha Evangelista, Lina El Kassar, Pascal Fragner, Karine Giraud-Triboult, Lucile Hoch, Xavier Nissan, Quentin Miagoux
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2025-10-01
Serier:Stem Cell Research
Online adgang:http://www.sciencedirect.com/science/article/pii/S1873506125001734
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