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, whic...
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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/S1873506124003246 |
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| author | Kerstin Filippi Isabelle Riße Luke M. Judge Bruce R. Conklin Bernd K. Fleischmann Michael Hesse |
| author_facet | Kerstin Filippi Isabelle Riße Luke M. Judge Bruce R. Conklin Bernd K. Fleischmann Michael Hesse |
| author_sort | Kerstin Filippi |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-172a56acc0324fc8b41baa94dd110a4c |
| institution | Kabale University |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-172a56acc0324fc8b41baa94dd110a4c2025-01-13T04:18:39ZengElsevierStem Cell Research1873-50612025-02-0182103626Generation 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-6Kerstin Filippi0Isabelle Riße1Luke M. Judge2Bruce R. Conklin3Bernd K. Fleischmann4Michael Hesse5Institute of Physiology I, Medical Faculty, University of Bonn, GermanyInstitute of Physiology I, Medical Faculty, University of Bonn, GermanyGladstone Institutes, San Francisco, USA; University of California, San Francisco, USAGladstone Institutes, San Francisco, USA; University of California, San Francisco, USAInstitute of Physiology I, Medical Faculty, University of Bonn, GermanyInstitute of Physiology I, Medical Faculty, University of Bonn, Germany; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S1873506124003246 |
| spellingShingle | Kerstin Filippi Isabelle Riße Luke M. Judge Bruce R. Conklin Bernd K. Fleischmann Michael Hesse 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 Stem Cell Research |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124003246 |
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