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

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

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: England : Stem cell research , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 710978

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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