Generation of a homozygous DNMT3A knock-out hiPSC line for modeling of cardiovascular diseases associated with clonal hematopoiesis of indeterminate potential

Summary

Mutations associated with clonal hematopoiesis of indeterminate potential (CHIP) have been linked to cardiovascular disease (CVD), with DNA methyltransferase 3A (DNMT3A) being the most commonly mutated gene. (Jaiswal et al. 2017; Abplanalp et al. 2021) We generated a genome-edited human induced pluripotent stem cell (hiPSC) line with a homozygous knock-out (KO) of DNMT3A, to mimic loss-of-function mutations, and an isogenic mock-treated control line (mock ctrl). For quality control, we tested the pluripotency of these hiPSC lines and their ability to differentiate into the three germ layers. The generation of these cell lines enables the analysis of cellular pathomechanisms of DNMT3A-related, CHIP-associated CVDs. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Triantafyllou C, Peitz M, Fleischmann BK, Rieck S
Journal Stem cell research
Publication Date 2025 Aug;86:103707
PubMed 40311329
DOI 10.1016/j.scr.2025.103707

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