Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells.

ABSTRACT: Introduction: Glycogen storage disease type III (GSDIII) is a rare genetic disease caused by mutations in the AGL gene encoding the glycogen debranching enzyme (GDE). The deficiency of this enzyme, involved in cytosolic glycogen degradation, leads to pathological glycogen accumulation in liver, skeletal muscles and heart. Although the disease manifests with hypoglycemia and liver metabolism impairment, the progressive myopathy is the major disease burden in adult GSDIII patients, without any curative treatment currently available. Methods: Here, we combined the self-renewal and differentiation capabilities of human induced pluripotent stem cells (hiPSCs) with cutting edge CRISPR/Cas9 gene editing technology to establish a stable AGL knockout cell line and to exp

SUBMITTER: Rossiaud L 

PROVIDER: S-EPMC10213880 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature