Modeling Supravalvular Aortic Stenosis Syndrome With Human Induced Pluripotent Stem Cells
Author(s) -
Xin Ge,
Yongming Ren,
Óscar Bártulos,
Min Young Lee,
Zhichao Yue,
KunYong Kim,
Wei Li,
Peter J. Amos,
Esra Çağavi,
Amulya Iyer,
Wei Zheng,
Hongyu Zhao,
Kathleen A. Martin,
Darrell N. Kotton,
George Tellides,
InHyun Park,
Lixia Yue,
Yibing Qyang
Publication year - 2012
Publication title -
circulation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.795
H-Index - 607
eISSN - 1524-4539
pISSN - 0009-7322
DOI - 10.1161/circulationaha.112.116996
Subject(s) - supravalvular aortic stenosis , medicine , induced pluripotent stem cell , stenosis , cardiology , stem cell , embryonic stem cell , microbiology and biotechnology , genetics , gene , biology
Supravalvular aortic stenosis (SVAS) is caused by mutations in the elastin (ELN) gene and is characterized by abnormal proliferation of vascular smooth muscle cells (SMCs) that can lead to narrowing or blockage of the ascending aorta and other arterial vessels. Having patient-specific SMCs available may facilitate the study of disease mechanisms and development of novel therapeutic interventions.
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