| Literature DB >> 31426022 |
Hao Liu1, Yatping Tsui2, Jiaxian Wang3, Chen Su4, Rui Zheng5, Yongfeng Shao6, Buqing Ni7.
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.Entities:
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Year: 2019 PMID： 31426022 DOI： 10.1016/j.scr.2019.101535
Source DB: PubMed Journal: Stem Cell Res ISSN： 1873-5061 Impact factor: 2.020