产生纯合子DNMT3A敲除的hiPSC系，用于与不确定潜力的克隆造血相关的心血管疾病建模

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-04-05 DOI:10.1016/j.scr.2025.103707

Christos Triantafyllou , Michael Peitz , Bernd K. Fleischmann , Sarah Rieck

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引用次数: 0

摘要

与不确定电位克隆造血（CHIP）相关的突变与心血管疾病（CVD）有关，DNA甲基转移酶3A （DNMT3A）是最常见的突变基因。（Jaiswal et al., 2017, Abplanalp et al., 2021）我们生成了一个基因组编辑的人类诱导多能干细胞（hiPSC）系，该系具有DNMT3A的纯合敲除（KO），以模拟功能丧失突变，以及一个等基因模拟处理的对照系（模拟对照）。为了质量控制，我们测试了这些hiPSC系的多能性及其向三个胚层分化的能力。这些细胞系的产生能够分析dnmt3a相关的chip相关cvd的细胞病理机制。

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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 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.

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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.