Generation of a heterozygous TPM1-E192K knock-in human induced pluripotent stem cell line using CRISPR/Cas9 system

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 T...

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Veröffentlicht in:Stem cell research 2022-08, Vol.63, p.102878-102878, Article 102878
Hauptverfasser: Kang, Ji-Young, Mun, Dasom, Chun, Yumin, Kim, Hyoeun, Yun, Nuri, Lee, Seung-Hyun, Joung, Boyoung
Format: Artikel
Sprache:eng
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Zusammenfassung: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2022.102878