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Induced pluripotent stem cell lines (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of a two month-old boy and the parents. Jervell and Lange-Nielsen syndrome (JLNS) was diagnosed in the boy carrying combined KCNQ1 frameshift c.431delC (p.I145Sfs*92) and nonsense c.1175G > A(p.W392X) variants inherited from his mother and father respectively. 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, carrying identified KCNQ1 variants with corresponding PBMC, and have a normal karyotype. Thus we established three iPSC lines as useful tools for studying the pathophysiological mechanism of JLNS and drug testing.

Original publication

DOI

10.1016/j.scr.2021.102391

Type

Journal article

Journal

Stem Cell Res

Publication Date

05/2021

Volume

53

Keywords

China, Humans, Induced Pluripotent Stem Cells, Infant, Jervell-Lange Nielsen Syndrome, KCNQ1 Potassium Channel, Leukocytes, Mononuclear, Male