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Induced pluripotent stem cell lines (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of an eight months-old boy and the parents. Long QT syndrome type 5 (LQT5) was diagnosed after identifying a heterozygous c.226G>A (p.D76N) variant in KCNE1 gene carried by the boy and inherited from his father who has a prolonged QT in ECG as well. PBMCs were reprogrammed using non-integrative Sendai viral vectors containing reprogramming factors OCT4, SOX2, KLF4 and C-MYC. iPSCs were shown to express pluripotent markers, have trilineage differentiation potential, carry KCNE1-D76N mutation, have a normal karyotype. Thus we established 2 new LQT5 iPSC lines and a related control line as useful tools for studying the pathophysiological mechanism of LQT5 and drug testing.

Original publication

DOI

10.1016/j.scr.2020.101798

Type

Journal article

Journal

Stem Cell Res

Publication Date

05/2020

Volume

45

Keywords

Cell Differentiation, Cellular Reprogramming, China, Humans, Induced Pluripotent Stem Cells, Infant, Leukocytes, Mononuclear, Long QT Syndrome, Male, Mutation