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

Research output: Contribution to journalArticlepeer-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 languageEnglish (US)
Article number102878
JournalStem Cell Research
Volume63
DOIs
StatePublished - Aug 2022
Externally publishedYes

ASJC Scopus subject areas

  • Cell Biology
  • Developmental Biology

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