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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Published inStem cell research Vol. 33; pp. 36 - 40
Main Authors 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
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.12.2018
Elsevier
Subjects
Adult
Female
Heterozygote
Humans
Induced Pluripotent Stem Cells - metabolism
Mutation
RecQ Helicases - genetics
Young Adult
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Summary: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.
Bibliography:ObjectType-Case Study-2
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ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2018.10.003