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Article

Generation of an induced pluripotent stem cell line from a long QT syndrome patient carrying KCNH2/1956C > A mutation.

Stem cell research - 1 Jul 2022

Guo Fengfeng, Sun Yaxun, Wang Hongkun, Wang Hao, Zhou Jingjun, Fan Hangping, Su Jun, Gong Tingyu, Jiang Chenyang, Liang Ping

Abstract excerpt

Long QT syndrome (LQT) is an inherited primary arrhythmic disorder characterized by prolonged QT interval on the surface electrocardiogram and life-threatening arrhythmia. In this study, a skin biopsy was obtained from an LQT type 2 (LQT2) patient, who carried a nonsense mutation (c.1956C > A; p.Y652X) in the potassium voltage-gated channel subfamily H member 2 (KCNH2) gene. The skin fibroblasts were reprogrammed...

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Identifiers

PMID: 35569348
DOI: 10.1016/j.scr.2022.102813

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Generation of an induced pluripotent stem cell line from a long QT syndrome patient carrying KCNH2/1956C > A mutation.PMID 35569348Read ↗

Establishment of a human-induced pluripotent stem cell line from a long QT syndrome type 2 patient harboring a KCNH2 mutation.Semantic proximity Read ↗

Generation and characterization of an induced pluripotent stem cell (iPSC) line (NUIGi003-A) from a long QT syndrome type 2 (LQT2) patient harbouring the KCNH2 c.2464G>A pathogenic variant.Semantic proximity Read ↗

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