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

Blog Article

The DNA helicase RECQL4 is known for its roles in DNA replication and repair.RECQL4 mutations cause Carafe 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 Gloves tool to further interrogate the role of RECQL4 DNA helicase in vitro.