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

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 journal › Article › peer-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 language	English (US)
Article number	102874
Journal	Stem Cell Research
Volume	63
DOIs	https://doi.org/10.1016/j.scr.2022.102874
State	Published - Aug 2022
Externally published	Yes

ASJC Scopus subject areas

Cell Biology
Developmental Biology

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10.1016/j.scr.2022.102874

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Kim, H., Kim, H. J., Oh, J., Lee, S. T., Won, D., Choi, H. K., Choi, J. R., Kim, S., Kim, H. P., Kim, S. J., Park, S. W., Kang, S. M., & Lee, S. H. (2022). An induced pluripotent stem cell line (YCMi006-A) generated from a patient with hypertrophic cardiomyopathy who carries the ACTA1 mutation p.Ile343Met. Stem Cell Research, 63, Article 102874. https://doi.org/10.1016/j.scr.2022.102874

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

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.",

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

note = "Publisher Copyright: {\textcopyright} 2022 The Author(s)",

year = "2022",

month = aug,

doi = "10.1016/j.scr.2022.102874",

language = "English (US)",

volume = "63",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

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T1 - An induced pluripotent stem cell line (YCMi006-A) generated from a patient with hypertrophic cardiomyopathy who carries the ACTA1 mutation p.Ile343Met

AU - Kim, Hyoeun

AU - Kim, Hyeong Jin

AU - Oh, Jaewon

AU - Lee, Seung Tae

AU - Won, Dongju

AU - Choi, Hyo Kyoung

AU - Choi, Jong Rak

AU - Kim, Sangwoo

AU - Kim, Hyoung Pyo

AU - Kim, Seok Jun

AU - Park, Sahng Wook

AU - Kang, Seok Min

AU - Lee, Seung Hyun

PY - 2022/8

Y1 - 2022/8

N2 - 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.

AB - 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.

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

Abstract

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