Generation of a heterozygous TPM1-E192K knock-in human induced pluripotent stem cell line using CRISPR/Cas9 system
Summary
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. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Kang JY, Mun D, Chun Y, Kim H, Yun N, Lee SH, Joung B |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Aug;63:102878 |
| PubMed | 35917600 |
| DOI | 10.1016/j.scr.2022.102878 |