Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation

Stem Cell Res. 2020 Jul:46:101823. doi: 10.1016/j.scr.2020.101823. Epub 2020 May 19.

Abstract

Muenke syndrome is the leading genetic cause of craniosynostosis and results in a variety of disabling clinical phenotypes. To model the disease and study the pathogenic mechanisms, a human induced pluripotent stem cell (hiPSC) line was generated from a patient diagnosed with Muenke syndrome. Successful reprogramming was validated by morphological features, karyotyping, loss of reprogramming factors, expression of pluripotency markers, mutation analysis and teratoma formation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Craniosynostoses* / genetics
  • Humans
  • Induced Pluripotent Stem Cells*
  • Mutation
  • Phenotype
  • Receptor, Fibroblast Growth Factor, Type 3 / genetics

Substances

  • FGFR3 protein, human
  • Receptor, Fibroblast Growth Factor, Type 3

Supplementary concepts

  • Muenke Syndrome