Generation of induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient with a p.Ser1457fs mutation in PKD1

Huang, Ching‐Ying; Ho, Ming-Ching; Lee, Jia-Jung; Hwang, Daw-Yang; Ko, Hui-Wen; Cheng, Yu‐Che; Hsu, Yu-Hung; Lu, Huai-En; Chen, Hung‐Chun; Hsieh, Patrick C.

doi:10.1016/j.scr.2017.09.004

Cited by 6 publications

(4 citation statements)

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“…Our research team applied iPSC technology to decipher the direct or indirect effect of the mutation gene on the cardiovascular phenotype of ADPKD cases. We first generated three ADPKD patient-derived iPSC lines and confirmed their pluripotency as reported [ 17 , 59 , 60 ]. We then efficiently differentiated the iPSCs toward cardiomyocyte-like cells, which were characterized as ventricular cardiomyocytes.…”

Section: Ipsc-based Human Disease Modeling: Kidney Differentiation An...supporting

confidence: 60%

Opportunities and Challenges of Human IPSC Technology in Kidney Disease Research

et al. 2022

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Human induced pluripotent stem cells (iPSCs), since their discovery in 2007, open a broad array of opportunities for research and potential therapeutic uses. The substantial progress in iPSC reprogramming, maintenance, differentiation, and characterization technologies since then has supported their applications from disease modeling and preclinical experimental platforms to the initiation of cell therapies. In this review, we started with a background introduction about stem cells and the discovery of iPSCs, examined the developing technologies in reprogramming and characterization, and provided the updated list of stem cell biobanks. We highlighted several important iPSC-based research including that on autosomal dominant kidney disease and SARS-CoV-2 kidney involvement and discussed challenges and future perspectives.

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Section: Ipsc-based Human Disease Modeling: Kidney Differentiation An...supporting

confidence: 60%

Opportunities and Challenges of Human IPSC Technology in Kidney Disease Research

et al. 2022

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“…Preserving the naturally occurring genetic mutations as well as the genetic background of their parental somatic cells, hiPSCs can be applicable to disease/patient-specific modeling. Genetically characterized hiPSCs have been efficiently derived from patients with autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive PKD (ARPKD), Alport syndrome, systemic lupus erythematosus, and Wilms' tumor and patients undergoing hemodialysis [58,[92][93][94][95][96][97]. In addition, mouse models commonly used in previous studies could not fully recapitulate human genotypes and phenotypes [98,99].…”

Section: Induced Pluripotent Stem Cellsmentioning

confidence: 99%

Stem cells: a potential treatment option for kidney diseases

Cheng

Pan

et al. 2020

Stem Cell Res Ther

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The prevalence of kidney diseases is emerging as a public health problem. Stem cells (SCs), currently considered as a promising tool for therapeutic application, have aroused considerable interest and expectations. With self-renewal capabilities and great potential for proliferation and differentiation, stem cell therapy opens new avenues for the development of renal function and structural repair in kidney diseases. Mounting evidence suggests that stem cells exert a therapeutic effect mainly by replacing damaged tissues and paracrine pathways. The benefits of various types of SCs in acute kidney disease and chronic kidney disease have been demonstrated in preclinical studies, and preliminary results of clinical trials present its safety and tolerability. This review will focus on the stem cell-based therapy approaches for the treatment of kidney diseases, including various cell sources used, possible mechanisms involved, and outcomes that are generated so far, along with prospects and challenges in clinical application.

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“…We then demonstrated that our engineering system can also be adapted to model human PKD by constructing similar tubules using cells that were isolated from a patient with ADPKD and confirming the beneficial effects of 2DG and berberine. Previous studies have successfully derived iPSC lines from PKD patients [ 28 , [72] , [73] , [74] ]. Moreover, Xia and colleagues showed that PKD-derived iPSCs can differentiate into UB progenitors and integrate into reaggregating mouse kidneys to form chimeric UB structures [ 28 ].…”

Section: Discussionmentioning

confidence: 99%

Engineered Kidney Tubules for Modeling Patient-Specific Diseases and Drug Discovery

et al. 2018

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The lack of engineering systems able to faithfully reproduce complex kidney structures in vitro has made it difficult to efficiently model kidney diseases and development. Using polydimethylsiloxane (PDMS) scaffolds and a kidney-derived cell line we developed a system to rapidly engineer custom-made 3D tubules with typical renal epithelial properties. This system was successfully employed to engineer patient-specific tubules, to model polycystic kidney disease (PKD) and test drug efficacy, and to identify a potential new pharmacological treatment. By optimizing our system we constructed functional ureteric bud (UB)-like tubules from human induced pluripotent stem cells (iPSCs), and identified a combination of growth factors that induces budding morphogenesis like embryonic kidneys do. Finally, we applied this assay to investigate budding defects in UB-like tubules derived from a patient with a PAX2 mutation.Our system enables the modeling of human kidney disease and development, drug testing and discovery, and lays the groundwork for engineering anatomically correct kidney tissues in vitro and developing personalized medicine applications.

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Generation of induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient with a p.Ser1457fs mutation in PKD1

Cited by 6 publications

References 1 publication

Opportunities and Challenges of Human IPSC Technology in Kidney Disease Research

Opportunities and Challenges of Human IPSC Technology in Kidney Disease Research

Stem cells: a potential treatment option for kidney diseases

Engineered Kidney Tubules for Modeling Patient-Specific Diseases and Drug Discovery

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