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.
|Journal||Stem Cell Research|
|Publication status||Published - 2022 Aug|
Bibliographical noteFunding 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.
© 2022 The Author(s)
All Science Journal Classification (ASJC) codes
- Developmental Biology
- Cell Biology