Generation of an isogenic series of genome-edited hiPSC lines with the BAG3P209L-mutation for modeling myofibrillar myopathy 6
BAG3 contributes to the maintenance of proteostasis through chaperone-assisted selective autophagy. This function is impaired by a single amino acid exchange (P209L) in the protein, which causes myofibrillar myopathy-6 (MFM6). This disease manifests as severe skeletal muscle weakness, neuropathy and...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-02-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124003398 |
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| author | Isabelle Riße Kerstin Filippi Martin Wiemann Bernd K. Fleischmann Michael Hesse |
| author_facet | Isabelle Riße Kerstin Filippi Martin Wiemann Bernd K. Fleischmann Michael Hesse |
| author_sort | Isabelle Riße |
| collection | DOAJ |
| description | BAG3 contributes to the maintenance of proteostasis through chaperone-assisted selective autophagy. This function is impaired by a single amino acid exchange (P209L) in the protein, which causes myofibrillar myopathy-6 (MFM6). This disease manifests as severe skeletal muscle weakness, neuropathy and restrictive cardiomyopathy. We generated an isogenic series of heterozygous and homozygous genome-edited human induced pluripotent stem cell (hiPSC) lines with the BAG3P209L-mutation and its control. For quality control, we tested the pluripotency of these hiPSC lines and their ability to differentiate into the three germ layers. Generation of these cell lines enables the analysis of cellular pathomechanisms of BAG3P209L-related MFM6. |
| format | Article |
| id | doaj-art-28892b689b1e43169ea8df017e78ef20 |
| institution | Kabale University |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-28892b689b1e43169ea8df017e78ef202025-01-13T04:18:42ZengElsevierStem Cell Research1873-50612025-02-0182103641Generation of an isogenic series of genome-edited hiPSC lines with the BAG3P209L-mutation for modeling myofibrillar myopathy 6Isabelle Riße0Kerstin Filippi1Martin Wiemann2Bernd K. Fleischmann3Michael Hesse4Institute of Physiology I, Medical Faculty, University of Bonn, GermanyInstitute of Physiology I, Medical Faculty, University of Bonn, GermanyInstitute of Physiology I, Medical Faculty, University of Bonn, GermanyInstitute of Physiology I, Medical Faculty, University of Bonn, GermanyCorresponding author.; Institute of Physiology I, Medical Faculty, University of Bonn, GermanyBAG3 contributes to the maintenance of proteostasis through chaperone-assisted selective autophagy. This function is impaired by a single amino acid exchange (P209L) in the protein, which causes myofibrillar myopathy-6 (MFM6). This disease manifests as severe skeletal muscle weakness, neuropathy and restrictive cardiomyopathy. We generated an isogenic series of heterozygous and homozygous genome-edited human induced pluripotent stem cell (hiPSC) lines with the BAG3P209L-mutation and its control. For quality control, we tested the pluripotency of these hiPSC lines and their ability to differentiate into the three germ layers. Generation of these cell lines enables the analysis of cellular pathomechanisms of BAG3P209L-related MFM6.http://www.sciencedirect.com/science/article/pii/S1873506124003398 |
| spellingShingle | Isabelle Riße Kerstin Filippi Martin Wiemann Bernd K. Fleischmann Michael Hesse Generation of an isogenic series of genome-edited hiPSC lines with the BAG3P209L-mutation for modeling myofibrillar myopathy 6 Stem Cell Research |
| title | Generation of an isogenic series of genome-edited hiPSC lines with the BAG3P209L-mutation for modeling myofibrillar myopathy 6 |
| title_full | Generation of an isogenic series of genome-edited hiPSC lines with the BAG3P209L-mutation for modeling myofibrillar myopathy 6 |
| title_fullStr | Generation of an isogenic series of genome-edited hiPSC lines with the BAG3P209L-mutation for modeling myofibrillar myopathy 6 |
| title_full_unstemmed | Generation of an isogenic series of genome-edited hiPSC lines with the BAG3P209L-mutation for modeling myofibrillar myopathy 6 |
| title_short | Generation of an isogenic series of genome-edited hiPSC lines with the BAG3P209L-mutation for modeling myofibrillar myopathy 6 |
| title_sort | generation of an isogenic series of genome edited hipsc lines with the bag3p209l mutation for modeling myofibrillar myopathy 6 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124003398 |
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