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

Stem Cell Res. 2018 Dec:33:36-40. doi: 10.1016/j.scr.2018.10.003. Epub 2018 Oct 2.

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Mutation
  • RecQ Helicases / genetics*
  • Young Adult

Substances

  • RECQL4 protein, human
  • RecQ Helicases