Article
Establishment of a human-induced pluripotent stem cell line from a long QT syndrome type 2 patient harboring a KCNH2 mutation.
Stem cell research - 1 Dec 2024
Mun Dasom, Kang Ji-Young, Park Malgeum, Yoo Gyeongseo, Kim Hyoeun, Yun Nuri, Mi Hwang You, Joung Boyoung
Abstract excerpt
Long QT syndrome type 2 (LQT2) is a heart disorder resulting from a loss-of-function mutation in theKCNH2gene that causes loss of Kv11.1 channel function, potentially resulting in syncope, arrhythmias, and sudden death. We derived induced pluripotent stem cell line from PBMC of LQT2 patient carrying a variant of pathogenic variant (c.157G > A; p.Gly53Ser). The generation of iPSC lines was achieved using the...
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