An induced pluripotent stem cell line (YCMi006-A) generated from a patient with hypertrophic cardiomyopathy who carries the ACTA1 mutation p.Ile343Met
oleh: 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
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2022-08-01 |
Deskripsi
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.