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...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-08-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000625 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850213555872202752 |
|---|---|
| author | Kerstin Filippi Martin Wiemann Stefan Rupp Michael Peitz Bernd K. Fleischmann Michael Hesse |
| author_facet | Kerstin Filippi Martin Wiemann Stefan Rupp Michael Peitz Bernd K. Fleischmann Michael Hesse |
| author_sort | Kerstin Filippi |
| collection | DOAJ |
| description | 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 latter manifests as skeletal muscle dystrophy and restrictive cardiomyopathy. To model MFM6, we generated two non-isogenic human induced pluripotent stem cell (iPSC) lines from patients with this variant. Pluripotency analyses and germ layer differentiations were performed to check the iPSC quality. These hiPSCs enable the characterization of the pathophysiology of MFM6 and testing of new experimental therapeutic approaches. |
| format | Article |
| id | doaj-art-43af50fabfc84b60a4f54a7581d145e8 |
| institution | OA Journals |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-43af50fabfc84b60a4f54a7581d145e82025-08-20T02:09:07ZengElsevierStem Cell Research1873-50612025-08-018610371210.1016/j.scr.2025.103712Generation of human induced pluripotent stem cell (iPSC) lines from two patients with BAG3 P209L myofibrillar myopathy-6Kerstin Filippi0Martin Wiemann1Stefan Rupp2Michael Peitz3Bernd K. Fleischmann4Michael Hesse5Institute of Physiology I, University of Bonn, Medical Faculty, Bonn, GermanyInstitute of Physiology I, University of Bonn, Medical Faculty, Bonn, GermanyPediatric Heart Center, Justus Liebig University Giessen, Giessen, GermanyCell Programming Core Facility, University of Bonn, Medical Faculty, Bonn, GermanyInstitute of Physiology I, University of Bonn, Medical Faculty, Bonn, GermanyInstitute of Physiology I, University of Bonn, Medical Faculty, Bonn, Germany; Corresponding author.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 latter manifests as skeletal muscle dystrophy and restrictive cardiomyopathy. To model MFM6, we generated two non-isogenic human induced pluripotent stem cell (iPSC) lines from patients with this variant. Pluripotency analyses and germ layer differentiations were performed to check the iPSC quality. These hiPSCs enable the characterization of the pathophysiology of MFM6 and testing of new experimental therapeutic approaches.http://www.sciencedirect.com/science/article/pii/S1873506125000625 |
| spellingShingle | Kerstin Filippi Martin Wiemann Stefan Rupp Michael Peitz Bernd K. Fleischmann Michael Hesse Generation of human induced pluripotent stem cell (iPSC) lines from two patients with BAG3 P209L myofibrillar myopathy-6 Stem Cell Research |
| title | Generation of human induced pluripotent stem cell (iPSC) lines from two patients with BAG3 P209L myofibrillar myopathy-6 |
| title_full | Generation of human induced pluripotent stem cell (iPSC) lines from two patients with BAG3 P209L myofibrillar myopathy-6 |
| title_fullStr | Generation of human induced pluripotent stem cell (iPSC) lines from two patients with BAG3 P209L myofibrillar myopathy-6 |
| title_full_unstemmed | Generation of human induced pluripotent stem cell (iPSC) lines from two patients with BAG3 P209L myofibrillar myopathy-6 |
| title_short | Generation of human induced pluripotent stem cell (iPSC) lines from two patients with BAG3 P209L myofibrillar myopathy-6 |
| title_sort | generation of human induced pluripotent stem cell ipsc lines from two patients with bag3 p209l myofibrillar myopathy 6 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506125000625 |
| work_keys_str_mv | AT kerstinfilippi generationofhumaninducedpluripotentstemcellipsclinesfromtwopatientswithbag3p209lmyofibrillarmyopathy6 AT martinwiemann generationofhumaninducedpluripotentstemcellipsclinesfromtwopatientswithbag3p209lmyofibrillarmyopathy6 AT stefanrupp generationofhumaninducedpluripotentstemcellipsclinesfromtwopatientswithbag3p209lmyofibrillarmyopathy6 AT michaelpeitz generationofhumaninducedpluripotentstemcellipsclinesfromtwopatientswithbag3p209lmyofibrillarmyopathy6 AT berndkfleischmann generationofhumaninducedpluripotentstemcellipsclinesfromtwopatientswithbag3p209lmyofibrillarmyopathy6 AT michaelhesse generationofhumaninducedpluripotentstemcellipsclinesfromtwopatientswithbag3p209lmyofibrillarmyopathy6 |