An hiPSC-CM approach for electrophysiological phenotyping of a patient-specific case of short-coupled TdP.

mRNA expression of many important calcium handling proteins was significantly decreased, including RyR2, SERCA2a, phospholamban (PLN), L-type calcium channel (Ca V 1.2), NCX1, and the calcium/calmodulin dependent kinase (CAMK2), or showed a trend towards downregulation, such as calsequestrin (CSQ2). mRNA expression of proteins involved in the formation of the AP were also decreased, including the rapid component of the potassium repolarization current (K V 11.1) and the depolarizing sodium current (Na V 1.5). mRNA expression of the potassium current mainly responsible for the stabilization of the resting membrane potential (K IR 2.1) was also seemingly lower in the patient, but is known to be close to absent as generally reported in all hiPSC-CMs [ 14 ].

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