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

doi:10.1016/j.scr.2018.10.003

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

Molecular & Cellular Oncology

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

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.

Original language	English (US)
Pages (from-to)	36-40
Number of pages	5
Journal	Stem Cell Research
Volume	33
DOIs	https://doi.org/10.1016/j.scr.2018.10.003
State	Published - Dec 2018

ASJC Scopus subject areas

Developmental Biology
Cell Biology

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10.1016/j.scr.2018.10.003

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title = "Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation",

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.",

author = "Jewell, {Brittany E.} and Mo Liu and Linchao Lu and Ruoji Zhou and Jian Tu and Dandan Zhu and Zijun Huo and An Xu and Donghui Wang and Helen Mata and Weidong Jin and Weiya Xia and Rao, {Pulivarthi H.} and Ruiying Zhao and Hung, {Mien Chie} and Wang, {Lisa L.} and Lee, {Dung Fang}",

note = "Publisher Copyright: {\textcopyright} 2018",

year = "2018",

month = dec,

doi = "10.1016/j.scr.2018.10.003",

language = "English (US)",

volume = "33",

pages = "36--40",

journal = "Stem Cell Research",

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TY - JOUR

T1 - Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation

AU - Jewell, Brittany E.

AU - Liu, Mo

AU - Lu, Linchao

AU - Zhou, Ruoji

AU - Tu, Jian

AU - Zhu, Dandan

AU - Huo, Zijun

AU - Xu, An

AU - Wang, Donghui

AU - Mata, Helen

AU - Jin, Weidong

AU - Xia, Weiya

AU - Rao, Pulivarthi H.

AU - Zhao, Ruiying

AU - Hung, Mien Chie

AU - Wang, Lisa L.

AU - Lee, Dung Fang

PY - 2018/12

Y1 - 2018/12

N2 - 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.

AB - 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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SN - 1873-5061

VL - 33

SP - 36

EP - 40

JO - Stem Cell Research

JF - Stem Cell Research

ER -

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

Abstract

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