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

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

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The DNA helicase RECQL4 is known for its roles in DNA replication and repair.RECQL4 mutations cause several genetic disorders including google pixel 7 freedom 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 kaiser copy stands DNA helicase in vitro.