Generation of an induced pluripotent stem cell line (PUMCHi006-A) derived from a patient with pulmonary arterial hypertension carrying heterozygous c.1339 G > A mutation in PTGIS gene

Stem Cell Res. 2020 Dec:49:102088. doi: 10.1016/j.scr.2020.102088. Epub 2020 Nov 15.

Abstract

Our previous study found that mutations in the PTGIS gene contributed high susceptibility to pulmonary arterial hypertension (PAH). We have generated disease-specific induced pluripotent stem cell (iPSC) lines from a PAH patient carrying the heterozygous c.1339 G > A mutation in PTGIS gene. The generated iPSC lines can be differentiated into endothelial cells to investigate the pathogenesis of PAH associated with PTGIS gene, which could provide valuable resources for personalized medicine.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line*
  • Cytochrome P-450 Enzyme System / genetics*
  • Endothelial Cells
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells*
  • Mutation
  • Pulmonary Arterial Hypertension* / genetics

Substances

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