Elucidating cardiovascular phenotaypes employing genome editing of iPS cells

描述（由申请人提供）： 我们的目标是开发一种创新的方法，以高通量产生等基因诱导多能干细胞（iPSC），并使用其分化的后代来了解人类遗传变异对冠状动脉疾病（CAD）风险的影响。与CAD、心肌梗塞（MI）、腹主动脉瘤和颅内动脉瘤相关的基因组变体在缺乏已知基因的chr9p21的延伸中被发现。我们将使用这个基因座作为我们研究的模型，同时专注于9p21，我们的整体方法将广泛适用于复杂遗传结构的HLBS疾病的研究。

DESCRIPTION (provided by applicant): We aim to develop an innovative approach to generate, at high-throughput, isogenic induced pluripotent stem cells (iPSCs), and use their differentiated progeny to understand the impact of human genetic variation on the risk of developing coronary artery disease (CAD). A genomic variant associated with CAD, myocardial infarction (Ml), abdominal aortic aneurysm, and intracranial aneurysm is found in a stretch of chr9p21 devoid of known genes. We will use this locus as a model for our study; while focusing on 9p21, our overall approach will be broadly applicable to the study of HLBS diseases of complex genetic architecture.