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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




Journal article


Stem Cell Res

Publication Date





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