Division of Cardiology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea.
Department of Biochemistry and Molecular Biology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea.
Stem Cell Res. 2022 Aug;63:102878. doi: 10.1016/j.scr.2022.102878. Epub 2022 Jul 28.
E192K missense mutation of TPM1 has been found in different types of cardiomyopathies (e.g., hypertrophic cardiomyopathy, dilated cardiomyopathy, and left ventricular non-compaction), leading to systolic dysfunction, diastolic dysfunction, and/or tachyarrhythmias. Here, we generated a heterozygous TPM1-E192K knock-in human induced pluripotent stem cell (iPSC) line using CRISPR/Cas9-based genome editing system. The cells exhibit normal karyotype, typical stem cell morphology, expression of pluripotency markers and differentiation ability into three germ layers. Accordingly, this cell line could provide a useful cell resource for exploring the pathogenic role of TPM1-E192K mutation in different types of cardiomyopathies.
TPM1 的 E192K 错义突变已在不同类型的心肌病（如肥厚型心肌病、扩张型心肌病和左心室致密化不全）中被发现，导致收缩功能障碍、舒张功能障碍和/或心动过速。在这里，我们使用基于 CRISPR/Cas9 的基因组编辑系统生成了一个杂合 TPM1-E192K 敲入人诱导多能干细胞（iPSC）系。这些细胞具有正常的核型、典型的干细胞形态、多能性标记物的表达以及向三个胚层分化的能力。因此，该细胞系可为探索 TPM1-E192K 突变在不同类型心肌病中的致病作用提供有用的细胞资源。
