Article
Establishment of two human induced pluripotent stem cell lines from familial long QT syndrome type 1 patients carrying KCNQ1 mutation.
Stem cell research - 1 Dec 2024
Mun Dasom, Yoo Gyeongseo, Park Malgeum, Kang Ji-Young, Yun Nuri, Joung Boyoung
Abstract excerpt
Long QT syndrome type 1 (LQT1) is a rare heart disorder caused by a loss-of-function mutation in the KCNQ1 gene that causes loss of Kv7.1 channel function, which can lead to Palpitations, Syncope, and Sudden cardiac arrest. We derived induced pluripotent stem cells from PBMC of LQT1 patients carrying a pathogenic variant (c.734G>A; p.Gly245Glu). The non-integrative Sendai virus-mediated iPSC reprogramming method...
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