Generation of three induced pluripotent stem cell lines from patients with glycogen storage disease type III.
Stem Cell Res
; 72: 103214, 2023 10.
Article
em En
| MEDLINE
| ID: mdl-37769385
ABSTRACT
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Sistema da Enzima Desramificadora do Glicogênio
/
Doença de Depósito de Glicogênio Tipo III
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Células-Tronco Pluripotentes Induzidas
Limite:
Humans
Idioma:
En
Revista:
Stem Cell Res
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
França