Genome Editing of Induced Pluripotent Stem Cells to Decipher Cardiac Channelopathy Variant.

ABSTRACT:

Background

The long QT syndrome (LQTS) is an arrhythmogenic disorder of QT interval prolongation that predisposes patients to life-threatening ventricular arrhythmias such as Torsades de pointes and sudden cardiac death. Clinical genetic testing has emerged as the standard of care to identify genetic variants in patients suspected of having LQTS. However, these results are often confounded by the discovery of variants of uncertain significance (VUS), for which there is insufficient evidence of pathogenicity.

Objectives

The purpose of this study was to demonstrate that genome editing of patient-specific induced pluripotent stem cells (iPSCs) can be a valuable approach to delineate the pathogenicity of VUS in cardiac channelopathy.

Methods

Peripheral blood mononuclear c

SUBMITTER: Garg P 

PROVIDER: S-EPMC6050025 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature