Generation of human induced pluripotent stem cell (iPSC) lines from two patients with BAG3 P209L myofibrillar myopathy-6
As member of the chaperone-assisted selective autophagy (CASA) complex, BAG3 is important for the turnover of muscle proteins. Patients with a point mutation at position 626 in the BAG3 gene (p.P209L, c.626C>T, Chr.10q26) suffer from polyneuropathy and severe myofibrillar myopathy-6 (MFM6). The l...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-08-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000625 |
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