Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene

Stem Cell Res. 2019 Jan;34:101374. doi: 10.1016/j.scr.2018.101374. Epub 2018 Dec 26.

Abstract

Noonan syndrome with multiple lentigines (NSML), formerly known as LEOPARD Syndrome, is a rare autosomal dominant disorder. Approximately 90% of NSML cases are caused by missense mutations in the PTPN11 gene which encodes the protein tyrosine phosphatase SHP2. A human induced pluripotent stem cell (iPSC) line was generated using peripheral blood mononuclear cells (PBMCs) from a patient with NSML that carries a gene mutation of p.Q510P on the PTPN11 gene using non-integrating Sendai virus technique. This iPSC line offers a useful resource to study the disease pathophysiology and a cell-based model for drug development to treat NSML.

Publication types

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

MeSH terms

  • Adolescent
  • Base Sequence
  • Cell Culture Techniques / methods*
  • Cell Line
  • Female
  • Humans
  • Induced Pluripotent Stem Cells / pathology*
  • LEOPARD Syndrome / genetics*
  • LEOPARD Syndrome / pathology*
  • Mutation / genetics*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics*

Substances

  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11