Generation of three induced pluripotent stem cell lines from patients with glycogen storage disease type III.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
received:
03
04
2023
revised:
01
09
2023
accepted:
22
09
2023
medline:
6
11
2023
pubmed:
29
9
2023
entrez:
28
9
2023
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 37769385
pii: S1873-5061(23)00200-3
doi: 10.1016/j.scr.2023.103214
pii:
doi:
Substances chimiques
Glycogen Debranching Enzyme System
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
103214Informations de copyright
Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.