R534C mutation in hERG causes a trafficking defect in iPSC-derived cardiomyocytes from patients with type 2 long QT syndrome.

doi:10.1038/s41598-019-55837-w

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Article

R534C mutation in hERG causes a trafficking defect in iPSC-derived cardiomyocytes from patients with type 2 long QT syndrome.

Scientific reports - 16 Dec 2019

Mesquita Fernanda C P, Arantes Paulo C, Kasai-Brunswick Tais H, Araujo Dayana S, Gubert Fernanda, Monnerat Gustavo, Silva Dos Santos Danúbia, Neiman Gabriel, Leitão Isabela C, Barbosa Raiana A Q, Coutinho Jorge L, Vaz Isadora M, Dos Santos Marcus N, Borgonovo Tamara, Cruz Fernando E S, Miriuka Santiago, Medei Emiliano H, Campos de Carvalho Antonio C, Carvalho Adriana B

Abstract excerpt

Patient-specific cardiomyocytes obtained from induced pluripotent stem cells (CM-iPSC) offer unprecedented mechanistic insights in the study of inherited cardiac diseases. The objective of this work was to study a type 2 long QT syndrome (LQTS2)-associated mutation (c.1600C > T in KCNH2, p.R534C in hERG) in CM-iPSC. Peripheral blood mononuclear cells were isolated from two patients with the R534C mutation and...

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PMID: 31844156
DOI: 10.1038/s41598-019-55837-w
PMCID: PMC6915575

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