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Article

Overlap Arrhythmia Syndromes Resulting from Multiple Genetic Variations Studied in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

International journal of molecular sciences - 1 Jul 2021

Treat Jacqueline A, Pfeiffer Ryan, Barajas-Martinez Hector, Goodrow Robert J, Bot Corina, Haedo Rodolfo J, Knox Ronald, Cordeiro Jonathan M

Abstract excerpt

Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) are used for genetic models of cardiac diseases. We report an arrhythmia syndrome consisting of Early Repolarization Syndrome (ERS) and Short QT Syndrome (SQTS). The index patient (MMRL1215) developed arrhythmia-mediated syncope after electrocution and was found to carry six mutations. Functional alterations resulting from these mutations were...

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PMID: 34281161
DOI: 10.3390/ijms22137108
PMCID: PMC8268422

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