Generation of an RBM20-mutation-associated left-ventricular non-compaction cardiomyopathy iPSC line (UMGi255-A) into a DCM genetic background to investigate monogenetic cardiomyopathies
RBM20 mutations account for 3 % of genetic cardiomypathies and manifest with high penetrance and arrhythmogenic effects. Numerous mutations in the conserved RS domain have been described as causing dilated cardiomyopathy (DCM), whereas a particular mutation (p.R634L) drives development of a differen...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2024-02-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123002763 |
| _version_ | 1797356361537814528 |
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| author | Hanna Eberl Sabine Rebs Stefanie Hoppe Farbod Sedaghat-Hamedani Elham Kayvanpour Benjamin Meder Katrin Streckfuss-Bömeke |
| author_facet | Hanna Eberl Sabine Rebs Stefanie Hoppe Farbod Sedaghat-Hamedani Elham Kayvanpour Benjamin Meder Katrin Streckfuss-Bömeke |
| author_sort | Hanna Eberl |
| collection | DOAJ |
| description | RBM20 mutations account for 3 % of genetic cardiomypathies and manifest with high penetrance and arrhythmogenic effects. Numerous mutations in the conserved RS domain have been described as causing dilated cardiomyopathy (DCM), whereas a particular mutation (p.R634L) drives development of a different cardiac phenotype: left-ventricular non-compaction cardiomyopathy. We generated a mutation-induced pluripotent stem cell (iPSC) line in which the RBM20-LVNC mutation p.R634L was introduced into a DCM patient line with rescued RBM20-p.R634W mutation. These DCM-634L-iPSC can be differentiated into functional cardiomyocytes to test whether this RBM20 mutation induces development of the LVNC phenotype within the genetic context of a DCM patient. |
| first_indexed | 2024-03-08T14:26:27Z |
| format | Article |
| id | doaj.art-b675b9ae2541449a9fefa3e7075b9752 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-08T14:26:27Z |
| publishDate | 2024-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-b675b9ae2541449a9fefa3e7075b97522024-01-13T04:43:52ZengElsevierStem Cell Research1873-50612024-02-0174103290Generation of an RBM20-mutation-associated left-ventricular non-compaction cardiomyopathy iPSC line (UMGi255-A) into a DCM genetic background to investigate monogenetic cardiomyopathiesHanna Eberl0Sabine Rebs1Stefanie Hoppe2Farbod Sedaghat-Hamedani3Elham Kayvanpour4Benjamin Meder5Katrin Streckfuss-Bömeke6Institute of Pharmacology and Toxicology, University of Würzburg, GermanyInstitute of Pharmacology and Toxicology, University of Würzburg, Germany; Clinic for Cardiology and Pneumology, Georg-August University Göttingen and DZHK (German Center for Cardiovascular Research), Partner Site Göttingen, GermanyInstitute of Pharmacology and Toxicology, University of Würzburg, GermanyDepartment of Internal Medicine III, University of Heidelberg, and DZHK, Partner Site Heidelberg, GermanyDepartment of Internal Medicine III, University of Heidelberg, and DZHK, Partner Site Heidelberg, GermanyDepartment of Internal Medicine III, University of Heidelberg, and DZHK, Partner Site Heidelberg, GermanyInstitute of Pharmacology and Toxicology, University of Würzburg, Germany; Clinic for Cardiology and Pneumology, Georg-August University Göttingen and DZHK (German Center for Cardiovascular Research), Partner Site Göttingen, Germany; Comprehensive Heart Failure Center (CHFC), University Clinic Würzburg, Würzburg, Germany; Corresponding author at: Institute of Pharmacology and Toxicology, University of Würzburg, Germany.RBM20 mutations account for 3 % of genetic cardiomypathies and manifest with high penetrance and arrhythmogenic effects. Numerous mutations in the conserved RS domain have been described as causing dilated cardiomyopathy (DCM), whereas a particular mutation (p.R634L) drives development of a different cardiac phenotype: left-ventricular non-compaction cardiomyopathy. We generated a mutation-induced pluripotent stem cell (iPSC) line in which the RBM20-LVNC mutation p.R634L was introduced into a DCM patient line with rescued RBM20-p.R634W mutation. These DCM-634L-iPSC can be differentiated into functional cardiomyocytes to test whether this RBM20 mutation induces development of the LVNC phenotype within the genetic context of a DCM patient.http://www.sciencedirect.com/science/article/pii/S1873506123002763 |
| spellingShingle | Hanna Eberl Sabine Rebs Stefanie Hoppe Farbod Sedaghat-Hamedani Elham Kayvanpour Benjamin Meder Katrin Streckfuss-Bömeke Generation of an RBM20-mutation-associated left-ventricular non-compaction cardiomyopathy iPSC line (UMGi255-A) into a DCM genetic background to investigate monogenetic cardiomyopathies Stem Cell Research |
| title | Generation of an RBM20-mutation-associated left-ventricular non-compaction cardiomyopathy iPSC line (UMGi255-A) into a DCM genetic background to investigate monogenetic cardiomyopathies |
| title_full | Generation of an RBM20-mutation-associated left-ventricular non-compaction cardiomyopathy iPSC line (UMGi255-A) into a DCM genetic background to investigate monogenetic cardiomyopathies |
| title_fullStr | Generation of an RBM20-mutation-associated left-ventricular non-compaction cardiomyopathy iPSC line (UMGi255-A) into a DCM genetic background to investigate monogenetic cardiomyopathies |
| title_full_unstemmed | Generation of an RBM20-mutation-associated left-ventricular non-compaction cardiomyopathy iPSC line (UMGi255-A) into a DCM genetic background to investigate monogenetic cardiomyopathies |
| title_short | Generation of an RBM20-mutation-associated left-ventricular non-compaction cardiomyopathy iPSC line (UMGi255-A) into a DCM genetic background to investigate monogenetic cardiomyopathies |
| title_sort | generation of an rbm20 mutation associated left ventricular non compaction cardiomyopathy ipsc line umgi255 a into a dcm genetic background to investigate monogenetic cardiomyopathies |
| url | http://www.sciencedirect.com/science/article/pii/S1873506123002763 |
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