Generation of a human induced pluripotent stem cell line YCMi004-A from a patient with dilated cardiomyopathy carrying a protein-truncating mutation of the Titin gene and its differentiation towards cardiomyocytes

Sun Ho Lee, Jaewon Oh, Seung Tae Lee, Dongju Won, Sangwoo Kim, Hyo Kyoung Choi, Seok Jun Kim, Hyunho Han, Minjae Yoon, Jong Rak Choi, Ho Geun Yoon, Sahng Wook Park, Seok Min Kang, Seung Hyun Lee

Research output: Contribution to journalArticlepeer-review

Abstract

Dilated cardiomyopathy (DCM) is a heart muscle disease that causes heart failure and is the leading cause for heart transplantation. It is a heart muscle disease resulted from a variety of genetics, toxic, metabolic, and infectious causes. One of the most prevalent genetic causes of DCM is a protein-truncating variant in the Titin gene (TTNtv). We have generated a human-induced pluripotent stem cell (hiPSC) line from patients who underwent heart transplantation due to DCM carrying a TTNtv mutation (c.70051C > T, p.Arg23351Ter) at the age of 20. The generated hiPSCs showed normal karyotype (46, XY) and expression of pluripotency markers, and were differentiated towards cardiomyocytes successfully.

Original languageEnglish
Article number102629
JournalStem Cell Research
Volume59
DOIs
Publication statusPublished - 2022 Mar

Bibliographical note

Funding Information:
This work has supported by the National Research Foundation of Korea (NRF) grant funded by the Korea government (MSIT) (No. NRF-2021R1I1A1A01060135, 2019R1C1C1002334, 2018R1D1A1B07049956). This study also was supported by Faculty research grant of Yonsei University College of Medicine (6-2021-0058), and a grant from the Korea Food Research Institute funded by the Ministry of Science, ICT & Future Planning (E0210400). Human stem cell line, CMC-hiPSC-011 was provided by National Stem Cell Bank of Korea (Korea National Institute of Health), originally provided from Catholic University.

Publisher Copyright:
© 2021 The Author(s)

All Science Journal Classification (ASJC) codes

  • Developmental Biology
  • Cell Biology

Fingerprint

Dive into the research topics of 'Generation of a human induced pluripotent stem cell line YCMi004-A from a patient with dilated cardiomyopathy carrying a protein-truncating mutation of the Titin gene and its differentiation towards cardiomyocytes'. Together they form a unique fingerprint.

Cite this