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 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. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Jewell BE, Liu M, Lu L, Zhou R, Tu J, Zhu D, Huo Z, Xu A, Wang D, Mata H, Jin W, Xia W, Rao PH, Zhao R, Hung MC, Wang LL, Lee DF
Journal Stem cell research
Publication Date 2018 Dec;33:36-40
PubMed 30312871
PubMed Central PMC6317900
DOI 10.1016/j.scr.2018.10.003

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