Generation of two non-integrated induced pluripotent stem cell lines from urine-derived cells of a Chinese patient carrying NF1 gene mutation

Stem Cell Res. 2020 Jul:46:101842. doi: 10.1016/j.scr.2020.101842. Epub 2020 May 30.

Abstract

Mutations in the neurofibromin (NF1) gene cause neurofibromatosis type 1 (NF1), a complex tumour predisposition syndrome. Here, we generated two induced pluripotent stem cell (iPSC) lines using urine cells (UCs) derived from a 21-year-old female NF1 patient carrying c.496_497delGT mutation in the NF1 gene (p.Val166LeufsTer7). The newly derived SMBCi003-A and SMBCi003-B iPSC lines used as a cellular model to unravel pathogenesis of NF1.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • China
  • Female
  • Genes, Neurofibromatosis 1
  • Humans
  • Induced Pluripotent Stem Cells*
  • Mutation
  • Neurofibromatosis 1* / genetics
  • Neurofibromin 1 / genetics
  • Young Adult

Substances

  • Neurofibromin 1