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Generation of a heterozygous TPM1-E192K knock-in human induced pluripotent stem cell line using CRISPR/Cas9 system
DC Field | Value | Language |
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dc.contributor.author | 이승현 | - |
dc.contributor.author | 정보영 | - |
dc.date.accessioned | 2022-12-22T03:33:27Z | - |
dc.date.available | 2022-12-22T03:33:27Z | - |
dc.date.issued | 2022-08 | - |
dc.identifier.issn | 1873-5061 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/191905 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | Elsevier | - |
dc.relation.isPartOf | STEM CELL RESEARCH | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | CRISPR-Cas Systems / genetics | - |
dc.subject.MESH | Cardiomyopathies* / metabolism | - |
dc.subject.MESH | Gene Editing | - |
dc.subject.MESH | Heterozygote | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Induced Pluripotent Stem Cells* / metabolism | - |
dc.subject.MESH | Mutation | - |
dc.subject.MESH | Tropomyosin / genetics | - |
dc.title | Generation of a heterozygous TPM1-E192K knock-in human induced pluripotent stem cell line using CRISPR/Cas9 system | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Biochemistry and Molecular Biology (생화학-분자생물학교실) | - |
dc.contributor.googleauthor | Ji-Young Kang | - |
dc.contributor.googleauthor | Dasom Mun | - |
dc.contributor.googleauthor | Yumin Chun | - |
dc.contributor.googleauthor | Hyoeun Kim | - |
dc.contributor.googleauthor | Nuri Yun | - |
dc.contributor.googleauthor | Seung-Hyun Lee | - |
dc.contributor.googleauthor | Boyoung Joung | - |
dc.identifier.doi | 10.1016/j.scr.2022.102878 | - |
dc.contributor.localId | A02932 | - |
dc.contributor.localId | A03609 | - |
dc.relation.journalcode | J02680 | - |
dc.identifier.eissn | 1876-7753 | - |
dc.identifier.pmid | 35917600 | - |
dc.contributor.alternativeName | Lee, Seung Hyun | - |
dc.contributor.affiliatedAuthor | 이승현 | - |
dc.contributor.affiliatedAuthor | 정보영 | - |
dc.citation.volume | 63 | - |
dc.citation.startPage | 102878 | - |
dc.identifier.bibliographicCitation | STEM CELL RESEARCH, Vol.63 : 102878, 2022-08 | - |
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