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

Stem Cell Research (Aug 2022)

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

Affiliations

Hyoeun Kim: Department of Biochemistry and Molecular Biology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea
Hyeong-Jin Kim: Department of Biochemistry and Molecular Biology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea
Jaewon Oh: Division of Cardiology, Severance Cardiovascular Hospital, Cardiovascular Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea
Seung-Tae Lee: Department of Laboratory Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea
Dongju Won: Department of Laboratory Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea
Hyo-Kyoung Choi: Research Group of Healthcare, Korea Food Research Institute, Wanju-gun, Jeollabuk-do, 55365, South Korea
Jong Rak Choi: Department of Laboratory Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea
Sangwoo Kim: 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
Hyoung-Pyo Kim: 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
Seok-Jun Kim: 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
Sahng Wook Park: 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; Corresponding authors at: Department of Biochemistry and Molecular Biology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 03722, South Korea.
Seok-Min Kang: Division of Cardiology, Severance Cardiovascular Hospital, Cardiovascular Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea; Corresponding authors at: Department of Biochemistry and Molecular Biology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 03722, South Korea.
Seung-Hyun Lee: 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; Corresponding authors at: Department of Biochemistry and Molecular Biology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 03722, South Korea.

Journal volume & issue: Vol. 63
p. 102874

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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