Generation of two isogenic control lines by correcting the BAG3 P209L mutation of human induced pluripotent stem cell (hiPSC) lines from patients with myofibrillar myopathy-6

Generation of two isogenic control lines by correcting the BAG3 P209L mutation of human induced pluripotent stem cell (hiPSC) lines from patients with myofibrillar myopathy-6

BAG3 plays a key role in proteostasis as a central component of the chaperone-assisted selective autophagy (CASA) complex. A point mutation (p.P209L; c.626C>T) in the BAG3 gene causes severe myofibrillar myopathy-6 (MFM6), restrictive cardiomyopathy and polyneuropathy leading to muscle weakness a...

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Bibliographic Details
Main Authors: Kerstin Filippi, Martin Wiemann, Bernd K. Fleischmann, Michael Hesse
Format: Article
Language:English
Published: Elsevier 2025-02-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506124003258
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