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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Detalles Bibliográficos
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
Descripción
Sumario: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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