Derivation of an induced pluripotent stem cell line (PUMCHi003-A) from a patient with pulmonary arterial hypertension carrying heterozygous mutation in PTGIS gene

Stem Cell Res. 2020 Jul:46:101875. doi: 10.1016/j.scr.2020.101875. Epub 2020 Jun 9.

Abstract

Pulmonary arterial hypertension (PAH) is a rare but severe illness associated with mutations in the PTGIS gene. The single nucleotide variants may lead to the impairment of the endothelial cells functions, resulting in proliferation of the smooth muscle cells and occlusion of the pulmonary arterioles. We derived an induced pluripotent cell line from a PAH patient with heterozygous PTGIS c.755 G > A, which could serve as a unique model to understand the pathogenesis of PAH.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Proliferation
  • Cytochrome P-450 Enzyme System
  • Endothelial Cells
  • Humans
  • Hypertension, Pulmonary* / genetics
  • Induced Pluripotent Stem Cells*
  • Muscle, Smooth, Vascular
  • Mutation
  • Pulmonary Arterial Hypertension*

Substances

  • Cytochrome P-450 Enzyme System
  • PTGIS protein, human