Generation and characterization of three human induced pluripotent stem cell lines from patients with glycogen storage disease type II

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-08-29 DOI:10.1016/j.scr.2025.103823

Matthieu Lejars , Christelle Kabore , Benjamin Marande , Laura Brulle-Soumare , Nejette Lallouche , Karim Wahbi , Edoardo Malfatti , Teresinha Evangelista , Lina El Kassar , Pascal Fragner , Karine Giraud-Triboult , Lucile Hoch , Xavier Nissan , Quentin Miagoux

{"title":"Generation and characterization of three human induced pluripotent stem cell lines from patients with glycogen storage disease type II","authors":"Matthieu Lejars , Christelle Kabore , Benjamin Marande , Laura Brulle-Soumare , Nejette Lallouche , Karim Wahbi , Edoardo Malfatti , Teresinha Evangelista , Lina El Kassar , Pascal Fragner , Karine Giraud-Triboult , Lucile Hoch , Xavier Nissan , Quentin Miagoux","doi":"10.1016/j.scr.2025.103823","DOIUrl":null,"url":null,"abstract":"<div><div>Glycogen storage disease type II (GSDII), or Pompe disease, is a rare autosomal recessive metabolic disorder characterized by the deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). GAA deficiency results in the progressive accumulation of glycogen in cardiac and skeletal muscle tissues, leading to cellular dysfunction and clinical manifestations, including muscle weakness, respiratory difficulties, and cardiomyopathy. In this study, we report the derivation of three induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of GSDII patients. These patient-derived iPSC lines can be used to study pathological features of the disease and evaluate therapeutic strategies for Pompe disease.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103823"},"PeriodicalIF":0.7000,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Stem cell research","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1873506125001734","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOTECHNOLOGY & APPLIED MICROBIOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Glycogen storage disease type II (GSDII), or Pompe disease, is a rare autosomal recessive metabolic disorder characterized by the deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). GAA deficiency results in the progressive accumulation of glycogen in cardiac and skeletal muscle tissues, leading to cellular dysfunction and clinical manifestations, including muscle weakness, respiratory difficulties, and cardiomyopathy. In this study, we report the derivation of three induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of GSDII patients. These patient-derived iPSC lines can be used to study pathological features of the disease and evaluate therapeutic strategies for Pompe disease.

查看原文本刊更多论文

糖原储存病II型患者三种人诱导多能干细胞系的生成和特性

糖原储存病II型（GSDII），或庞贝病，是一种罕见的常染色体隐性代谢疾病，其特征是溶酶体酶酸-葡萄糖苷酶（GAA）缺乏。GAA缺乏导致糖原在心脏和骨骼肌组织中进行性积累，导致细胞功能障碍和临床表现，包括肌肉无力、呼吸困难和心肌病。在这项研究中，我们报道了从GSDII患者外周血单个核细胞中衍生出三种诱导多能干细胞（iPSC）系。这些患者来源的iPSC细胞系可用于研究疾病的病理特征和评估庞贝病的治疗策略。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.