许多人类表型无法在模型生物或免疫人类细胞系中复制。诱导多能干细胞（iPSCs）提供了一种方法，可以研究各种分化细胞类型中的疾病机制，同时避免了有限组织来源和尸后状态所带来的伦理和实际问题。本文讨论了iPSCs在遗传医学中的广泛应用，并描述了它们在研究肌肉骨骼、肺部、神经系统和心脏表型方面的应用。我们总结了每个器官系统所提出的具体挑战，并描述了iPSC模型如何应对这些挑战。最后，我们讨论了新兴的iPSC衍生器官样模型及其对人类疾病研究的潜在价值。《遗传学年鉴》第57卷的预期线上最终出版日期是2023年11月。请参阅http://www.annualreviews.org/page/journal/pubdates获取修订后的估计。

Many human phenotypes are impossible to recapitulate in model organisms or immortalized human cell lines. Induced pluripotent stem cells (iPSCs) offer a way to study disease mechanisms in a variety of differentiated cell types while circumventing ethical and practical issues associated with finite tissue sources and postmortem states. Here, we discuss the broad utility of iPSCs in genetic medicine and describe how they are being used to study musculoskeletal, pulmonary, neurologic, and cardiac phenotypes. We summarize the particular challenges presented by each organ system and describe how iPSC models are being used to address them. Finally, we discuss emerging iPSC-derived organoid models and the potential value that they can bring to studies of human disease. Expected final online publication date for the Annual Review of Genetics, Volume 57 is November 2023. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.