Stem Cell Research (Dec 2018)
Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation
- 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
Affiliations
- Brittany E. Jewell
- Department of Integrative Biology and Pharmacology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX 77030, USA
- Mo Liu
- Department of Integrative Biology and Pharmacology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA
- Linchao Lu
- Department of Pediatrics, Baylor College of Medicine, Texas Children's Cancer and Hematology Centers, Houston, TX 77030, USA
- Ruoji Zhou
- Department of Integrative Biology and Pharmacology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX 77030, USA
- Jian Tu
- Department of Integrative Biology and Pharmacology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Department of Musculoskeletal Oncology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, PR China
- Dandan Zhu
- Department of Integrative Biology and Pharmacology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA
- Zijun Huo
- Department of Integrative Biology and Pharmacology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Department of Endocrinology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, PR China
- An Xu
- Department of Integrative Biology and Pharmacology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA
- Donghui Wang
- Department of Integrative Biology and Pharmacology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Department of Pathophysiology, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, PR China
- Helen Mata
- Department of Pediatrics, Baylor College of Medicine, Texas Children's Cancer and Hematology Centers, Houston, TX 77030, USA
- Weidong Jin
- Department of Pediatrics, Baylor College of Medicine, Texas Children's Cancer and Hematology Centers, Houston, TX 77030, USA
- Weiya Xia
- Department of Molecular and Cellular Oncology, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA
- Pulivarthi H. Rao
- Department of Pediatrics, Baylor College of Medicine, Texas Children's Cancer and Hematology Centers, Houston, TX 77030, USA
- Ruiying Zhao
- Department of Integrative Biology and Pharmacology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA
- Mien-Chie Hung
- Department of Molecular and Cellular Oncology, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA; Graduate Institute of Biomedical Sciences and Center for Molecular Medicine, China Medical University, Taichung 404, Taiwan
- Lisa L. Wang
- Department of Pediatrics, Baylor College of Medicine, Texas Children's Cancer and Hematology Centers, Houston, TX 77030, USA; Corresponding author.
- Dung-Fang Lee
- Department of Integrative Biology and Pharmacology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX 77030, USA; Center for Stem Cell and Regenerative Medicine, The Brown Foundation Institute of Molecular Medicine for the Prevention of Human Diseases, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Center for Precision Health, School of Biomedical Informatics and School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Correspondence to: Dung-Fang Lee, Department of Integrative Biology and Pharmacology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
- Journal volume & issue
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Vol. 33
pp. 36 – 40
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.1878 + 32_1878 + 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.
