Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
11010779 | Stem Cell Research | 2018 | 5 Pages |
Abstract
The DNA helicase RECQL4 is known for its roles in DNA replication and repair. RECQL4 mutations cause several genetic disorders including Rothmund-Thomson syndrome (RTS), characterized by developmental defects and predisposition to osteosarcoma. Here we reprogrammed fibroblasts with a heterozygous RECQL4 mutation (c.1878â¯+â¯32_1878â¯+â¯55del24) to induced pluripotent stem cells (iPSCs). These iPSCs are pluripotent and are able to be differentiated into all three germ layers, providing a novel tool to further interrogate the role of RECQL4 DNA helicase in vitro.
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Authors
Brittany E. Jewell, Mo Liu, Linchao Lu, Ruoji Zhou, Jian Tu, Dandan Zhu, Zijun Huo, An Xu, Donghui Wang, Helen Mata, Weidong Jin, Weiya Xia, Pulivarthi H. Rao, Ruiying Zhao, Mien-Chie Hung, Lisa L. Wang, Dung-Fang Lee,