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The Safe, Effective, and Non-Invasive Production of Induced Pluripotent Stem Cells from Down Syndrome Patients

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Review of “Generation of Integration-Free Induced Pluripotent Stem Cells from Urine-Derived Cells Isolated from Individuals with Down Syndrome” from STEM CELLS Translational Medicine by Stuart P. Atkinson

In recent years, the study of Down Syndrome (DS) has moved from employing unspecific and incomplete mouse models to patient- and disease-specific induced pluripotent stem cells (iPSCs) [1, 2]. The laboratory of Alberto Costa (Case Western Reserve School of Medicine, Cleveland, Ohio, USA) has recently described a new protocol for non-invasive collection of DS patient-specific donor cells and safe and efficient reprogramming to pluripotency (T21-iPSCs). 

Lee et al. hope that their new STEM CELLS Translational Medicine study will safely advance our understanding of DS and bring us closer to successful palliative drug and cell-based treatments [3].

Specifically, the authors isolated donor cells from urine (most probably of kidney epithelial origin) [4, 5], to avoid invasive biopsy techniques, and employed a reprogramming technique employing non-integrative episomal DNA vectors [6], to prevent insertional mutagenesis. Additionally, the authors applied a chemically defined culture medium and substrate to further enhance the clinical applicability of resultant patient-specific T21-iPSCs and their derivatives. 

Following this strategy, the lab has reported the facile generation of 10 karyotype-confirmed genomically stable iPSC lines, underlining the robustness and reproducibility of the process (See Figure). Furthermore, the iPSCs generated displayed potent glutamatergic neurons and cardiomyocyte differentiation potential, highlighting their possible use for cell-based treatments, in vitro disease modeling, and high throughput drug screening which may contribute to an enhanced quality of life for DS patients.

Safe, effective, and non-Invasive: precisely the kind of strategy required for the production of Down Syndrome induced pluripotent stem cells. But why stop with DS? The authors of this excellent new study fully recommend the application of their technique to other neurodevelopmental and neurodegenerative disorders in which patient samples are difficult to obtain.

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  1. Hibaoui Y and Feki A. Concise Review: Methods and Cell Types Used to Generate Down Syndrome Induced Pluripotent Stem Cells. Journal of clinical medicine 2015;4:696-714.
  2. Lu HE, Yang YC, Chen SM, et al. Modeling neurogenesis impairment in Down syndrome with induced pluripotent stem cells from Trisomy 21 amniotic fluid cells. Exp Cell Res 2013;319:498-505.
  3. Y ML, Zampieri BL, Scott-McKean JJ, et al. Generation of Integration-Free Induced Pluripotent Stem Cells from Urine-Derived Cells Isolated from Individuals with Down Syndrome. Stem Cells Transl Med 2017;6:1465-1476.
  4. Zhou T, Benda C, Duzinger S, et al. Generation of induced pluripotent stem cells from urine. J Am Soc Nephrol 2011;22:1221-1228.
  5. Zhou T, Benda C, Dunzinger S, et al. Generation of human induced pluripotent stem cells from urine samples. Nat Protoc 2012;7:2080-2089.
  6. Yu J, Hu K, Smuga-Otto K, et al. Human induced pluripotent stem cells free of vector and transgene sequences. Science 2009;324:797-801.