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Updated: Jan 20, 2026

Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells
Published on: June 13, 2018
Establishment of a Beals syndrome patient-derived human induced pluripotent stem cell line HELPi001-A
Hao Liu1, Yatping Tsui2, Jiaxian Wang3
1Department of Cardiovascular Surgery, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China.
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.
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