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Stem Cell Res. 2019 Aug 8;40:101535. doi: 10.1016/j.scr.2019.101535. [Epub ahead of print]

Establishment of a Beals syndrome patient-derived human induced pluripotent stem cell line HELPi001-A.

Author information

1
Department of Cardiovascular Surgery, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China. Electronic address: 694882460@qq.com.
2
Geo Biotechnology Co., Ltd., Shenzhen 518001, China. Electronic address: tsuiypa@helpsci.com.cn.
3
Department of Cardiology, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China. Electronic address: wangjx@helpsci.com.cn.
4
Department of Cardiovascular Surgery, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China. Electronic address: 1482448935@qq.com.
5
Department of Cardiovascular Surgery, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China. Electronic address: zhengruirui_1126@126.com.
6
Department of Cardiovascular Surgery, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China. Electronic address: yongfengshao30@hotmail.com.
7
Department of Cardiovascular Surgery, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China. Electronic address: nbq1017@sohu.com.

Abstract

The human induced pluripotent stem cell line HELPi001-A was derived from peripheral blood mononuclear cells (PBMC) of a 35-year-old female Beals syndrome patient carrying a heterozygous FBN2c.728 T > C mutation. HELPi001-A were positive for pluripotent stem cell markers, had a normal karyotype and the ability to differentiate into cells representing all three germ layers. The patient not only demonstrated typical characteristics of Beals syndrome such as joint contractures and crumpled ears, but also demonstrated aortic dissection. HELPi001-A could serve as a platform for exploring the pathogenesis of cardiovascular and connective tissue disorders related to FBN2 mutation.

PMID:
31426022
DOI:
10.1016/j.scr.2019.101535
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