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Review
. 2016 Aug;5(3):192-201.
doi: 10.5582/irdr.2016.01062.

Urine-derived induced pluripotent stem cells as a modeling tool to study rare human diseases

Liang Shi  1 , Yazhou Cui  2 , Jing Luan  2 , Xiaoyan Zhou  2 , Jinxiang Han  2
Affiliations
Review

Urine-derived induced pluripotent stem cells as a modeling tool to study rare human diseases

Liang Shi et al. Intractable Rare Dis Res. 2016 Aug.

Abstract

Rare diseases with a low prevalence are a key public health issue because the causes of those diseases are difficult to determine and those diseases lack a clearly established or curative treatment. Thus, investigating the molecular mechanisms that underlie the pathology of rare diseases and facilitating the development of novel therapies using disease models is crucial. Human induced pluripotent stem cells (iPSCs) are well suited to modeling rare diseases since they have the capacity for self-renewal and pluripotency. In addition, iPSC technology provides a valuable tool to generate patient-specific iPSCs. These cells can be differentiated into cell types that have been affected by a disease. These cells would circumvent ethical concerns and avoid immunological rejection, so they could be used in cell replacement therapy or regenerative medicine. To date, human iPSCs could have been generated from multiple donor sources, such as skin, adipose tissue, and peripheral blood. However, these cells are obtained via invasive procedures. In contrast, several groups of researchers have found that urine may be a better source for producing iPSCs from normal individuals or patients. This review discusses urinary iPSC (UiPSC) as a candidate for modeling rare diseases. Cells obtained from urine have overwhelming advantages compared to other donor sources since they are safely, affordably, and frequently obtained and they are readily obtained from patients. The use of iPSC-based models is also discussed. UiPSCs may prove to be a key means of modeling rare diseases and they may facilitate the treatment of those diseases in the future.

Keywords: iPSCs; rare disease models; “urine cells”.

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Figures

Figure 1.
Figure 1.
Creation of models and applications of UiPSCs in the study of rare diseases. A diagram showing the creation of models of specific rare diseases using UiPSCs and their applications. Cells are isolated from patient urine samples and reprogrammed into iPSCs. Isogenic controls are created with gene-editing tools and then differentiated into diseased cells that can recreate crucial aspects of the disease in vitro. Patient-specific disease models can be used to identify new diagnostic biomarkers and to screen effective and novel drugs as well as to replace cells or tissues in regenerative medicine.
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