通过纠正来自肌原性肌病患者的人诱导多能干细胞（hiPSC）系BAG3 P209L突变，生成和表征等基因控制系-6。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-02-01 Epub Date: 2024-12-09 DOI:10.1016/j.scr.2024.103626

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

BAG3是伴侣辅助的选择性自噬复合物的核心成分，因此对蛋白质稳态很重要。该功能受点突变(p.P209L；c.626C>T)在BAG3基因中表达，导致肌原纤维性肌病-6 （MFM6）、限制性心肌病和多神经病变，表现为严重的骨骼肌无力和心力衰竭。通过对mfm6患者iPSC中的c.626C>T进行校正，获得了等基因诱导多能干细胞（iPSC）控制系。通过多能性和向三个胚层分化的测试来实现质量控制。与患者特异性MFM6 hiPSC结合，等基因hiPSC控制线能够正确分析MFM6。

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Generation and characterization of an isogenic control line by correcting the BAG3 P209L mutation of a human induced pluripotent stem cell (hiPSC) line from a patient with myofibrillar myopathy-6.

BAG3 is a central component of the chaperone-assisted selective autophagy complex and thus important for proteostasis. This function is affected by a point mutation (p.P209L; c.626C>T) in the BAG3 gene, leading to myofibrillar myopathy-6 (MFM6), restrictive cardiomyopathy and polyneuropathy, which manifests as severe skeletal muscle weakness and heart failure. The isogenic induced pluripotent stem cell (iPSC) control line was generated by correcting for c.626C>T in iPSCs from MFM6-patient. Quality control was achieved by testing for pluripotency and differentiation into the three germ layers. In conjunction with patient-specific MFM6 hiPSC, the isogenic hiPSC control line enable the correct analysis of MFM6.

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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.