Journal
STEM CELL RESEARCH
Volume 20, Issue -, Pages 115-117Publisher
ELSEVIER
DOI: 10.1016/j.scr.2017.03.012
Keywords
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Funding
- National Natural Science Foundation of China [81570422, 81500194]
- Youth Foundation of Guizhou Provincial People's Hospital [GZSYQN [2016] 03]
- Youth Foundation of Zhongshan Hospital [2015ZSQN48]
- Zhongshan Hospital [2015ZSYXQN12]
- Joint Project Funding for Major Diseases in Shanghai [2014ZYJB0402]
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Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective tissue disorder, commonly caused by genetic mutation of transforming growth factor-beta receptor (TGFBR)-1 or TGFBR2. This study describes the generation of human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells obtained from an LDS patient with TGFBR2 mutation (R193W). Analysis confirmed the cells had a normal karyotype, expressed typical pluripotency markers, had the ability to differentiate into all three germ layers in vivo, and retained the TGFBR2 mutation from the derived hiPSCs. This iPSC line represents a potentially useful tool for investigating LDS disease mechanisms. (C) 2017 Published by Elsevier B.V.
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