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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.

SUBMITTER: Jewell BE

PROVIDER: S-EPMC6317900 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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

Jewell Brittany E BE Liu Mo M Lu Linchao L Zhou Ruoji R Tu Jian J Zhu Dandan D Huo Zijun Z Xu An A Wang Donghui D Mata Helen H Jin Weidong W Xia Weiya W Rao Pulivarthi H PH Zhao Ruiying R Hung Mien-Chie MC Wang Lisa L LL Lee Dung-Fang DF

Stem cell research 20181002

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 t ...[more]

PMID: 30312871

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