Generation of a human-induced pluripotent stem cell line (NUMNi003-A) from a patient with autosomal dominant polycystic kidney disease harboring a PKD1 gene variant

PKD1 variants are risk factors for autosomal dominant polycystic kidney disease (ADPKD). However, the detailed mechanisms by which PKD1 variants cause ADPKD remain unclear. Currently, there are no curative treatments for ADPKD. We generated induced pluripotent stem cells (iPSCs) from a patient with ADPKD and a PKD1 variant. These iPSCs expressed stem cell markers and could differentiate into the three germ layers in vitro. The iPSCs will serve as useful tools for understanding the pathophysiology of ADPKD and for screening therapeutic approaches.

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Publication Details

Journal
Stem Cell Research
Published
2026-03-16
DOI
https://doi.org/10.1016/j.scr.2026.103967
Primary Topic
Genetic and Kidney Cyst Diseases
Type
article
Field-Weighted Citation Impact
0.00
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article

Generation of a human-induced pluripotent stem cell line (NUMNi003-A) from a patient with autosomal dominant polycystic kidney disease harboring a PKD1 gene variant

Asuka Horinouchi, Jun Matsumoto, Norio Ozaki, Chikao Onogi et al.
Stem Cell Research
Genetic and Kidney Cyst Diseases
article

Generation of a human-induced pluripotent stem cell line (NUMNi003-A) from a patient with autosomal dominant polycystic kidney disease harboring a PKD1 gene variant

Asuka Horinouchi, Jun Matsumoto, Norio Ozaki, Chikao Onogi, Kumiko Fujieda, Shoichi Maruyama, Itaru Kushima, Noritoshi Kato, Kazuhiro Furuhashi, Tomohiro Kawazoe, Akihito Tanaka, Yu Watanabe, Keita Hattori, Eri Koshi-Ito, Akihisa Kato
article en

Abstract

PKD1 variants are risk factors for autosomal dominant polycystic kidney disease (ADPKD). However, the detailed mechanisms by which PKD1 variants cause ADPKD remain unclear. Currently, there are no curative treatments for ADPKD. We generated induced pluripotent stem cells (iPSCs) from a patient with ADPKD and a PKD1 variant. These iPSCs expressed stem cell markers and could differentiate into the three germ layers in vitro. The iPSCs will serve as useful tools for understanding the pathophysiology of ADPKD and for screening therapeutic approaches.

Stem Cell ResearchVol. 93
Nagoya University Hospital (JP), Nagoya University (JP)
Good health and well-being
Openalex Percentile: Top 21%
Genetic and Kidney Cyst Diseases
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