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

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 plur...

Full description

Saved in:
Bibliographic Details
Main Authors: Christos Triantafyllou, Michael Peitz, Bernd K. Fleischmann, Sarah Rieck
Format: Article
Language:English
Published: Elsevier 2025-08-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506125000571
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
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.
ISSN:1873-5061