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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 ten years old boy with the type 2 Long QT syndrome carrying the heterozygous mutation c.1814C>T(p.P605L) in KCNH2. PBMCs were reprogrammed using non-integrative Sendai viral vectors containing reprogramming factors OCT4, SOX2, KLF4 and C-MYC. The iPSCs were shown to express pluripotent markers, have trilineage differentiation potential, carry c.1814C>T(p.P605L) mutation in KCNH2 and have a normal karyotype. Thuse the iPSC line we established will be useful for studying the pathogenesis of the type 2 long QT syndrome and drug testing.

Original publication




Journal article


Stem Cell Res

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