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Abstract: FR-PO773

Comprehensive Gene Expression Analysis Using Renal Coloboma Syndrome Patient-Derived iPSCs

Session Information

Category: Development, Stem Cells, and Regenerative Medicine

  • 500 Development, Stem Cells, and Regenerative Medicine


  • Yamamura, Yuta, Kanazawa University, Kanazawa, ISHIKAWA, Japan
  • Furuichi, Kengo, Kanazawa Medical University, Kahoku-Gun, Japan
  • Sako, Keisuke, Kanazawa University, Kanazawa, ISHIKAWA, Japan
  • Iwata, Yasunori, Kanazawa University, Kanazawa, ISHIKAWA, Japan
  • Sakai, Norihiko, Kanazawa University, Kanazawa, ISHIKAWA, Japan
  • Wada, Takashi, Kanazawa University, Kanazawa, ISHIKAWA, Japan

Renal coloboma syndrome (RCS) is characterized by kidney hypoplasia or dysplasia and abnormality of the optic nerve. PAX2 mutation is one of the major genetic abnormalities of RCS. PAX2 is an essential transcription factor for kidney development.
In mouse, Pax2 homozygous deficient mouse shows kidney agenesis and neonatal lethal. It is reported that Pax2 involved in ureteric bud branching via the regulation of Gdnf expression. However, the role of PAX2 gene during human kidney development is not clear. In this study, PAX2 regulated genes during human kidney development were evaluated using RCS patient derived induced pluripotent stem cells(iPSC)with PAX2 gene mutation.


Three RCS patient derived iPSCs with PAX2 gene mutation were established. Control iPSC and RCS patient derived iPSC were differentiated into kidney lineage cells with reported methods (Taguchi, et al. Cell Stem Cells 2014). The differentiated kidney organoid from iPSC were evaluated by immunocytochemistry and qPCR. Furthermore, to detect PAX2 regulated genes, comprehensive gene expression analysis was performed.


Kidney lineage cells were inducible from both control and RCS patient derived iPSC. The expression patens of kidney lineage markers (such as WT1, SIX2, AQP1, PODXL) were almost similar among three RCS patient derived iPSC with PAX2 gene mutation and control iPSC. PAX2 gene expression in control iPSC was peaked on day 14 in our protocols. In immunocytochemical analysis and qPCR, PAX2 was highly expressed in INTEGRINα8+/PDGFRα- cells, which was known as the surface marker as nephron progenitor cells. These cells were collected by flow cytometry. By comprehensive gene expression analysis using control and RCS patient derived INTEGRINα8+/PDGFRα- cells, 189 upregulated genes were detected in control samples. Some upregulated genes were confirmed by qPCR in control iPSC derived INTEGRINα8+/PDGFRα- cells. The gene expression was also confirmed in mouse embryonic kidney. Additionally, in silico study using FANTOM database also indicate that some of our candidate genes were upregulated during the kidney development.


Comprehensive analysis using RCS patient derived iPSC with PAX2 gene mutationis is useful for identification of PAX2 regulated genes during human kidney development.