17.05.2019: Determining genetic variant pathogenicity in LQTS using the CardioExcyte 96
Using a patient-independent induced pluripotent stem cell (hiPSC) model, researchers at Vanderbilt University investigated the effect of a mutation in the L-type calcium channel which causes a rare form of Long QT syndrome (LQTS). The group used the CardioExcyte 96 with SOL combined with patch clamp recordings to confirm that the mutation caused a prolongation of EFP due to slowing of voltage-dependent inactivation of CaV1.2 leading to a prolonged ventricular action potential. Their study not only establishes the N639T mutation as a novel LQTS type 8 mutation, but also demonstrates that patient-independent hiPSC models can be used to rapidly establish the pathogenicity of LQTS genetic variants.
We congratulate the authors Nikhil V. Chavali, Dmytro O. Kryshtal, Shan S. Parikh, Lili Wang, Andrew M. Glazer, Daniel J. Blackwell, Brett M. Kroncke, Moore Benjamin Shoemaker and Bjorn C. Knollmann.
Read the publication here.