BAG3 P209L肌原纤维性肌病-6患者诱导多能干细胞（iPSC）系的生成和表征

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-04-21 DOI:10.1016/j.scr.2025.103718

Kerstin Filippi , Isabelle Riße , Luke M. Judge , Bruce R. Conklin , Bernd K. Fleischmann , Michael Hesse

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引用次数: 0

摘要

作为伴侣辅助选择性自噬（CASA）复合物的成员，Bag3对机械应激肌肉蛋白的蛋白质稳态很重要。BAG3 P209L肌纤原性肌病-6 （MFM6）患者携带点突变(p.p P209L；c.626C>；T)在BAG3基因中表达，并表现出限制性心肌病、骨骼肌营养不良和多发性神经病等临床特征。为了获得具有代表性的mfm6模型，我们利用女性BAG3 p209l患者的活检来产生人诱导多能干细胞（iPSC）系。为了质量控制，进行了胚层分化和多能性分析。该iPSC使我们能够表征MFM6的病理生理学并开发创新的实验治疗策略。

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Generation and characterization of a human induced pluripotent stem cell (iPSC) line from a patient with BAG3 P209L myofibrillar myopathy-6

Bag3 is important for protein homeostasis in mechanically stressed muscle proteins as member of the chaperone-assisted selective autophagy (CASA) complex. Patients with BAG3 P209L myofibrillar myopathy-6 (MFM6) carry a point mutation (p.P209L; c.626C>T) in the BAG3 gene and display clinical features such as restrictive cardiomyopathy, skeletal muscle dystrophy and polyneuropathy. To obtain a representative MFM6-model, biopsies from a female BAG3 P209L-patient were used to generate a human induced pluripotent stem cell (iPSC) line. For quality control, germ layer differentiation and pluripotency analyses were conducted. This iPSC allows us to characterize the pathophysiology of MFM6 and develop innovative experimental therapeutic strategies.

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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.