Generation of a heterozygous Calsequestrin 2 F189L iPSC line (UMGi158-B) by CRISPR/Cas9 genome editing to investigate the cardiac pathophysiology of Takotsubo Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia
| Autor: | Gideon Syed Ali, Sabine Rebs, Hanna Eberl, Clarissa Zinke, Daniela Hübscher, Wiebke Maurer, Alexandra Busley, Lukas Cyganek, Katrin Streckfuss-Bömeke |
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| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | Stem Cell Research, Vol 81, Iss , Pp 103538- (2024) |
| Druh dokumentu: | article |
| ISSN: | 1873-5061 79218229 |
| DOI: | 10.1016/j.scr.2024.103538 |
| Popis: | Takotsubo Syndrome (TTS) is a potentially life-threatening disease characterized by a transient left ventricular apical akinesia in response to β-adrenergic overstimulation. Since a genetic predisposition is assumed, we generated an iPSC-line carrying a p.F189L mutation in the calcium buffering protein Calsequestrin 2 (CasQ2). This missense mutation was previously discovered in a TTS patient and further described in a family with Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). The established cell line is used to investigate the main mechanisms leading to TTS and CPVT using a patient-specific stem cell approach. |
| Databáze: | Directory of Open Access Journals |
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