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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 |

REPOSITORIES: biostudies-literature

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