JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
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Studying KCNQ1 Mutation and Drug Response in Type 1 Long QT Syndrome Using Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Patient-specific human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes (hiPSC-CMs) are becoming a valuable model for studying inherited cardiac arrhythmias. Type 1 long-QT syndrome is associated with the genetic variants of KCNQ1 gene that encodes Kv7.1, the α-subunit of the voltage-gated potassium channel QKT subfamily member 1 that channels the slow component of the outwardly rectifying K+ channel current in cardiac myocytes. Patient- or disease-specific hiPSC-CM model could facilitate the characterization of the genotype-phenotype relationships and testing of individualized drug responses.Here, we describe the methods in the generation of hiPSC-CMs, molecular and electrophysiological characterizations of their cellular phenotypes associated with KCNQ1/Kv7.1 defects, and evaluation of the effects of K+ channel-specific drugs.

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