Generation of human induced pluripotent stem cell (hiPSC) lines from patients with extreme high and low polygenic scores for QT interval

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-02-27 DOI:10.1016/j.scr.2025.103691

Devyn Mitchell , Rizwan Ullah , Loren Vanags , Alex Shen , Luke Jones , William Morris , Matthew J. O’Neill , Giovanni Davogustto , Christian Shaffer , Dan Roden , Ben Shoemaker , Hollie Williams , Teresa Strickland , Taylor Agee , Christopher Johnson , Brett Kroncke

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引用次数: 0

Abstract

Long QT syndrome (LQTS), an inherited cardiac arrhythmia syndrome with congenital and drug-induced presentations and known monogenic and polygenic contributions, represents a significant clinical challenge due to its complex genetic underpinning and propensity for fatal arrhythmias. In this study, we generated induced pluripotent stem cells (iPSCs) reprogrammed from peripheral blood mononuclear cells (PBMCs) of six patients with extreme polygenic scores for short and long corrected QT intervals. This patient-specific approach will enable us to better understand variable expressivity and penetrance of LQTS, using rigorously validated iPSC lines serve as a vital resource for elucidating the molecular mechanisms underlying LQTS.

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从QT间期多基因评分极高和极低的患者中产生人诱导多能干细胞（hiPSC）系

长QT综合征（LQTS）是一种遗传性心律失常综合征，具有先天性和药物诱导的表现，已知单基因和多基因的贡献，由于其复杂的遗传基础和致死性心律失常的倾向，代表了一个重大的临床挑战。在这项研究中，我们从6名短、长校正QT间期多基因评分极高的患者的外周血单个核细胞（PBMCs）中获得了诱导多能干细胞（iPSCs）。这种针对患者的方法将使我们能够更好地理解LQTS的可变表达性和外显性，使用经过严格验证的iPSC系作为阐明LQTS的分子机制的重要资源。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.