Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation

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 RE...

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Autores principales: Jewell, Brittany E., Liu, Mo, Lu, Linchao, Zhou, Ruoji, Tu, Jian, Zhu, Dandan, Huo, Zijun, Xu, An, Wang, Donghui, Mata, Helen, Jin, Weidong, Xia, Weiya, Rao, Pulivarthi H., Zhao, Ruiying, Hung, Mien-Chie, Wang, Lisa L., Lee, Dung-Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317900/
https://www.ncbi.nlm.nih.gov/pubmed/30312871
http://dx.doi.org/10.1016/j.scr.2018.10.003
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author Jewell, Brittany E.
Liu, Mo
Lu, Linchao
Zhou, Ruoji
Tu, Jian
Zhu, Dandan
Huo, Zijun
Xu, An
Wang, Donghui
Mata, Helen
Jin, Weidong
Xia, Weiya
Rao, Pulivarthi H.
Zhao, Ruiying
Hung, Mien-Chie
Wang, Lisa L.
Lee, Dung-Fang
author_facet Jewell, Brittany E.
Liu, Mo
Lu, Linchao
Zhou, Ruoji
Tu, Jian
Zhu, Dandan
Huo, Zijun
Xu, An
Wang, Donghui
Mata, Helen
Jin, Weidong
Xia, Weiya
Rao, Pulivarthi H.
Zhao, Ruiying
Hung, Mien-Chie
Wang, Lisa L.
Lee, Dung-Fang
author_sort Jewell, Brittany E.
collection PubMed
description 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.
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spelling pubmed-63179002019-01-03 Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation Jewell, Brittany E. Liu, Mo Lu, Linchao Zhou, Ruoji Tu, Jian Zhu, Dandan Huo, Zijun Xu, An Wang, Donghui Mata, Helen Jin, Weidong Xia, Weiya Rao, Pulivarthi H. Zhao, Ruiying Hung, Mien-Chie Wang, Lisa L. Lee, Dung-Fang Stem Cell Res Article 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. 2018-10-02 2018-12 /pmc/articles/PMC6317900/ /pubmed/30312871 http://dx.doi.org/10.1016/j.scr.2018.10.003 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/BY-NC-ND/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Article
Jewell, Brittany E.
Liu, Mo
Lu, Linchao
Zhou, Ruoji
Tu, Jian
Zhu, Dandan
Huo, Zijun
Xu, An
Wang, Donghui
Mata, Helen
Jin, Weidong
Xia, Weiya
Rao, Pulivarthi H.
Zhao, Ruiying
Hung, Mien-Chie
Wang, Lisa L.
Lee, Dung-Fang
Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation
title Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation
title_full Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation
title_fullStr Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation
title_full_unstemmed Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation
title_short Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation
title_sort generation of an induced pluripotent stem cell line from an individual with a heterozygous recql4 mutation
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317900/
https://www.ncbi.nlm.nih.gov/pubmed/30312871
http://dx.doi.org/10.1016/j.scr.2018.10.003
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