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
; 46: 101875, 2020 07.
Article
em En
| MEDLINE
| ID: mdl-32559633
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Células-Tronco Pluripotentes Induzidas
/
Hipertensão Arterial Pulmonar
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Hipertensão Pulmonar
Limite:
Humans
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article