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

Ji Young Kang; Dasom Mun; Yumin Chun; Hyoeun Kim; Nuri Yun; Seung Hyun Lee; Boyoung Joung

doi:10.1016/j.scr.2022.102878

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

Ji Young Kang, Dasom Mun, Yumin Chun, Hyoeun Kim, Nuri Yun, Seung Hyun Lee, Boyoung Joung

Department of Internal Medicine

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Article number	102878
Journal	Stem Cell Research
Volume	63
DOIs	https://doi.org/10.1016/j.scr.2022.102878
Publication status	Published - 2022 Aug

Bibliographical note

Funding 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).

Publisher Copyright:
© 2022 The Author(s)

All Science Journal Classification (ASJC) codes

Developmental Biology
Cell Biology

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10.1016/j.scr.2022.102878

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

abstract = "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.",

author = "Kang, {Ji Young} and Dasom Mun and Yumin Chun and Hyoeun Kim and Nuri Yun and Lee, {Seung Hyun} and Boyoung Joung",

note = "Funding 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). Publisher Copyright: {\textcopyright} 2022 The Author(s)",

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doi = "10.1016/j.scr.2022.102878",

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AU - Mun, Dasom

AU - Chun, Yumin

AU - Kim, Hyoeun

AU - Yun, Nuri

AU - Lee, Seung Hyun

AU - Joung, Boyoung

N1 - Funding 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). Publisher Copyright: © 2022 The Author(s)

PY - 2022/8

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

Abstract

Bibliographical note

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