An induced pluripotent stem cell line (YCMi006-A) generated from a patient with hypertrophic cardiomyopathy who carries the ACTA1 mutation p.Ile343Met

Hyoeun Kim, Hyeong Jin Kim, Jaewon Oh, Seung Tae Lee, Dongju Won, Hyo Kyoung Choi, Jong Rak Choi, Sangwoo Kim, Hyoung Pyo Kim, Seok Jun Kim, Sahng Wook Park, Seok Min Kang, Seung Hyun Lee

Research output: Contribution to journalArticlepeer-review

Abstract

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiovascular disease and is characterized by hypertrophy of the left ventricle. We reprogrammed peripheral blood mononuclear cells (PBMCs) from a HCM patient into pluripotent stem cells (iPSC) (YCMi006-A) carrying a heterozygous c.1029C > G mutation in ACTA1. The YCMi006-A cells expressed high levels of pluripotent markers, had a normal 46XX karyotype and demonstrated the capacity to differentiate into derivatives of all three germ layers. This cell line can be a valuable tool for investigating the pathogenesis of HCM.

Original languageEnglish
Article number102874
JournalStem Cell Research
Volume63
DOIs
Publication statusPublished - 2022 Aug

Bibliographical note

Funding Information:
This work was supported by the National Research Foundation of Korea (NRF) grant funded by the Korea government (MSIT) (No. NRF- 2021R1I1A1A01049625, 2022R1H1A2003919, 2019R1C1C1002334, 2022M3A9B6017424). This study also was supported by a grant from the Korea Food Research Institute funded by the Ministry of Science, ICT & Future Planning (E0210400). This research was supported by a grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health & Welfare, Republic of Korea (HI22C0198). The human stem cell line, CMC-hiPSC-011 was provided by the National Stem Cell Bank of Korea (Korea National Institute of Health), originally provided by Catholic University.

Publisher Copyright:
© 2022 The Author(s)

All Science Journal Classification (ASJC) codes

  • Developmental Biology
  • Cell Biology

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