Ed iPSCs was reduced compared to TSG control iPSCs. These two functional results were consistent with the earlier results (Fig. 5c, e ). All of these results verified that some biological behaviors of KLCs derived from TSG SAMSN1 iPSCs were changed like ADPKD compared to TSG control iPSCs. Thedeletion of the 5 UTR of SAMSN1 reduced its expression and may attenuate the differentiation or function of KLCs in ADPKD.Discussion Although decades have passed since the discovery of PKD1/PKD2 mutations in ADPKD, the pathogenesis of ADPKD HMR-1275 supplement remains unexplored and it remains unclear which other genes contribute to the pathogen of ADPKD. To personalize the study of the unique pathology of ADPKD, we first established and characterized ADPKD-iPSCs from a special ADPKD family without defects in the PKD1/Huang et al. Stem Cell Research Therapy (2017) 8:Page 14 ofFig. 6 Knockdown of SAMSN1 may attenuate differentiation and/or function of KLCs in ADPKD. (a ) Morphology of TSG control induced cells and TSG SAMSN1-induced iPSCs and the PubMed ID:http://www.ncbi.nlm.nih.gov/pubmed/27488460 relative expression rates of SAMSN1 in TSG SAMSN1-induced iPSCs compared to those in TSG control-induced cells. Bar = 100 m. Data presented as mean ?standard deviation from three independent sets of experiments, **P < 0.01. (d ) BSA absorption assays of TSG control-induced cells and TSG SAMSN1-induced iPSCs. Bar = 25 m. Data presented as mean ?standard deviation from three independent sets of experiments, **P < 0.01. (g) Results of water transportation assays of TSG control-induced cells and TSG SAMSN1-induced iPSCs. Data presented as mean ?standard deviation from three independent sets of experiments, *P < 0.05, **P < 0.01. ADPKD autosomal dominant polycystic kidney disease, iPSC induced pluripotent stem cell, TSG name of family member (Color figure online)PKD2 genes. We also reported a novel method of inducing human iPSCs to differentiate into functional KLCs, and the differentiated KLCs derived from ADPKD or his healthy sibling had different phenotypes and functions. Further, we found a rare mutation in the 5 UTR of the SAMSN1 gene, which may attenuate KLCs differentiation or/and function in ADPKD. The use of iPSCs for disease modeling is based on the fact that these cells are capable of self-renewal and can be differentiated into all types of cells of the human body, and can therefore be utilized for the preparation of different disease models to study disease pathogenesis. Moreover, disease-specific iPSCs could be of enormous use as far as development of specific therapeutic regimens/drugs is concerned. For example, this technique has been used to generate motor neurons from iPSCs of a patient with spinal muscular atrophy (SMA) that showed selective deficits compared to those derived from the child's unaffected mother [6]. This was the first study to demonstrate that human iPSCs can be used to model the specific pathology in a genetically inherited disease. Subsequently, more and more reports have shown that iPSCs derived from specific diseases provide good models for disease [22, 30?2]. In the case of ADPKD, although pathogenesis was studied previously,pathogenesis remained undetermined mostly because of the pathogenic gene polymorphisms or the existence of a third pathogenic gene [16]. ADPKD-iPSCs have previously been generated successfully but the genotypes were rarely described [33] or involved PKD gene mutations [34, 35]. In our study, ADPKD-iPSC lines have been generated from a Chinese ADPKD family without PKD1 or.
