杜氏肌萎缩症患者携带DMD基因外显子42-43缺失的诱导多能干细胞系（fmcpgi006 - a）的生成和分化

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-06-21 DOI:10.1016/j.scr.2025.103756

Yue Chang , Xiuyi Ai , Ruo Wu , Shu Zhang , Pei Zhang , Shiwen Wu

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引用次数: 0

摘要

杜氏肌营养不良症（DMD）是一种以严重进行性肌肉萎缩为特征的x连锁隐性遗传疾病。尽管呼吸系统并发症的治疗方法有所改善，但扩张型心肌病（DCM）合并心力衰竭仍然是DMD患者死亡的主要原因。我们从一名DMD基因缺失42-43外显子的患者身上获得了诱导多能干细胞（iPSC），并将其分化为心肌细胞（iPSC- cms）。该iPSC系表现出正常的形态、核型、多能性标记表达和三龄分化，而iPSC- cms则表现出典型的心肌细胞形态和表达特异性标记。

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Generation and differentiation of an induced pluripotent stem cell line (FMCPGHi006-A) from a patient with Duchenne muscular dystrophy carrying exons 42–43 deletion in the DMD gene

Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder characterized by severe progressive muscle atrophy. Although treatments for respiratory complications have improved, dilated cardiomyopathy (DCM) with heart failure remains the leading cause of death in patients with DMD. We generated an induced pluripotent stem cell (iPSC) line from a patient with a deletion of exons 42–43 in the DMD gene and differentiated it into cardiomyocytes (iPSC-CMs). This iPSC line exhibited normal morphology, karyotype, pluripotency marker expression, and trilineage differentiation, while the iPSC-CMs displayed a typical cardiomyocyte morphology and expressed specific markers.

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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.