Find in Library
Search millions of books, articles, and more
Indexed Open Access Databases
Generation of three induced pluripotent stem cell lines from patients with glycogen storage disease type III
oleh: Lucille Rossiaud, Emilie Pellier, Manon Benabides, Xavier Nissan, Giuseppe Ronzitti, Lucile Hoch
Format: | Article |
---|---|
Diterbitkan: | Elsevier 2023-10-01 |
Deskripsi
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.