Generation of three induced pluripotent stem cell lines from patients with glycogen storage disease type III


Glycogen storage disease type III (GSDIII) is an autosomal recessive disorder characterized by a deficiency of glycogen debranching enzyme (GDE) leading to cytosolic glycogen accumulation and inducing liver and muscle pathology. Skin fibroblasts from three GSDIII patients were reprogrammed into induced pluripotent stem cells (iPSCs) using non-integrated Sendai virus. All of the three lines exhibited normal morphology, expression of pluripotent markers, stable karyotype, potential of trilineage differentiation and absence of GDE expression, making them valuable tools for modeling GSDIII disease in vitro, studying pathological mechanisms and investigating potential treatments. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Rossiaud L, Pellier E, Benabides M, Nissan X, Ronzitti G, Hoch L
Journal Stem cell research
Publication Date 2023 Oct;72:103214
PubMed 37769385
DOI 10.1016/j.scr.2023.103214

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