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

doi:10.1016/j.scr.2022.102874

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

Stem Cell Res. 2022 Aug:63:102874. doi: 10.1016/j.scr.2022.102874. Epub 2022 Jul 28.

Authors

Hyoeun Kim¹, Hyeong-Jin Kim¹, Jaewon Oh², Seung-Tae Lee³, Dongju Won³, Hyo-Kyoung Choi⁴, Jong Rak Choi³, Sangwoo Kim⁵, Hyoung-Pyo Kim⁶, Seok-Jun Kim⁷, Sahng Wook Park⁸, Seok-Min Kang⁹, Seung-Hyun Lee¹⁰

Affiliations

¹ Department of Biochemistry and Molecular Biology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea.
² Division of Cardiology, Severance Cardiovascular Hospital, Cardiovascular Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea.
³ Department of Laboratory Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea.
⁴ Research Group of Healthcare, Korea Food Research Institute, Wanju-gun, Jeollabuk-do, 55365, South Korea.
⁵ Department of Biomedical Systems Informatics and Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea.
⁶ Department of Environmental Medical Biology, Institute of Tropical Medicine, Brain Korea 21 PLUS Project for Medical Science, Yonsei Genome Center, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea.
⁷ Department of Biomedical Science, Department of Integrative Biological Sciences & BK21 FOUR Educational Research Group for Age-associated Disorder Control Technology, Chosun University, Gwangju 61452, South Korea.
⁸ Department of Biochemistry and Molecular Biology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea; Department of Biochemistry and Molecular Biology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea. Electronic address: SWPARK64@yuhs.ac.
⁹ Division of Cardiology, Severance Cardiovascular Hospital, Cardiovascular Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea. Electronic address: smkang@yuhs.ac.
¹⁰ Department of Biochemistry and Molecular Biology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea; Department of Biochemistry and Molecular Biology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea. Electronic address: tiger815@yuhs.ac.

PMID: 35917599
DOI: 10.1016/j.scr.2022.102874

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cardiomyopathy, Hypertrophic* / pathology
Cell Line*
Humans
Induced Pluripotent Stem Cells* / metabolism
Leukocytes, Mononuclear / metabolism
Mutation / genetics