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.
Bibliographical noteFunding Information:
This study was supported by the Korean Fund for Regenerative Medicine (KFRM) grant funded by the Korea government (the Ministry of Science and ICT, the Ministry of Health & Welfare) (KFRM21B0604L1-01); the National Research Foundation of Korea (NRF) grants funded by the Korea government (MSIT) (NRF-2021R1I1A1A01052197 and NRF- 2021R1C1C2094541); and the Korean Cardiac Research Foundation (202101-02).
© 2022 The Author(s)
All Science Journal Classification (ASJC) codes
- Developmental Biology
- Cell Biology