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

Authors
 Ji-Young Kang  ;  Dasom Mun  ;  Yumin Chun  ;  Hyoeun Kim  ;  Nuri Yun  ;  Seung-Hyun Lee  ;  Boyoung Joung 
Citation
 STEM CELL RESEARCH, Vol.63 : 102878, 2022-08 
Journal Title
STEM CELL RESEARCH
ISSN
 1873-5061 
Issue Date
2022-08
MeSH
CRISPR-Cas Systems / genetics ; Cardiomyopathies* / metabolism ; Gene Editing ; Heterozygote ; Humans ; Induced Pluripotent Stem Cells* / metabolism ; Mutation ; Tropomyosin / genetics
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.
Files in This Item:
T202204617.pdf Download
DOI
10.1016/j.scr.2022.102878
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Biochemistry and Molecular Biology (생화학-분자생물학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Seung Hyun(이승현) ORCID logo https://orcid.org/0000-0001-7549-9430
Joung, Bo Young(정보영) ORCID logo https://orcid.org/0000-0001-9036-7225
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/191905
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