4.2 Article

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

Journal

STEM CELL RESEARCH
Volume 49, Issue -, Pages -

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ELSEVIER
DOI: 10.1016/j.scr.2020.102088

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Funding

  1. Beijing Natural Science Foundation [7181009]
  2. National Natural Science Foundation of China [81630003]
  3. Chinese Academy of Medical Sciences (CAMS) Innovation Fund for Medical Sciences [2016I2M-1-002]
  4. National Key Research and Development Program of China [2016YFC0901502]

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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.

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