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.

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.

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Déclaration de conflit d'intérêts

Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Katrin Streckfuss-Boemeke reports a relationship with BioNtech that includes: funding grants. Katrin Streckfuss-Boemeke reports a relationship with Novartis that includes: speaking and lecture fees. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.