Article

Isogenic sets of hiPSC-CMs harboring <i>KCNH2</i> mutations capture location-related phenotypic differences

2019-11-18

Abstract excerpt

<h4>Aims</h4> Long QT syndrome type 2 (LQT2) is caused by mutations in the gene KCNH2 , encoding the hERG ion channel. Clinically, mild and severe phenotypes are associated with this cardiac channelopathy, complicating efforts to predict patient risk. The location of the mutation within KCNH2 contributes to this variable disease manifestation. Here we determined whether such phenotypic differences could be dete...

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Literature Corpus work: 48356ffd-b348-5407-848b-1cabb05f58e5
DOI: 10.1101/846519

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