iCell Cardiomyocytes CPVT RYR2 E2311D, 01434

Cardiac Ryanodine Receptor (RYR2) is one of the most important proteins in cardiomyocyte physiology and calcium-induced calcium release. Mutations in RYR2 are a common cause of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). Clinically, CPVT is characterized by life-threatening arrhythmias which may present during exercise or stress.

A missense mutation in the gene encoding Cardiac Ryanodine Receptor (RYR2) gives rise to CPVT Type 1 resulting in a change of amino acid 2311 from Glutamic Acid-to-Aspartic Acid (E2311D). The pathobiology of this mutation remains generally poorly understood.

To enable investigation of the functional consequences of the mutation, the E2311D mutation was engineered in an otherwise apparently healthy, normal donor background, 01434. The use of genome engineering strategies to generate this mutation results in an isogenic pair that is vital for analysis.

iCell^® Cardiomyocytes (E2311D) display abnormal cardiomyocyte function consistent with CPVT mutations associated with the cardiac ryanodine receptor.

Best-in-Class Biology

• Fully differentiated, >90% pure cardiomyocytes
• Expression of relevant cardiac markers (e.g. cTNT, ACTN2)
• Isogenic control available