Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

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