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

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