Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion


Juvenile nephronophthisis is an inherited renal ciliopathy, causing cystic kidney disease, renal fibrosis, and end-stage renal failure. Human induced pluripotent stem cell (hiPSC) lines, derived from two Juvenile nephronophthisis patients, were generated from peripheral blood mononuclear cells by episomal plasmid vectors. Generated hiPSC lines showed self-renewal and pluripotency and carried a large deletion in NPHP1 (Nephrocystin 1) gene. Since the molecular pathogenesis caused by NPHP1 dysfunction remains unclear, these cell resources provide useful tools to establish disease models and to develop new therapies for juvenile nephronophthisis. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Arai Y, Takami M, An Y, Matsuo-Takasaki M, Hemmi Y, Wakabayashi T, Inoue J, Noguchi M, Nakamura Y, Sugimoto K, Takemura T, Okita K, Osafune K, Takasato M, Hayata T, Hayashi Y
Journal Stem cell research
Publication Date 2020 May;45:101815
PubMed 32361464
DOI 10.1016/j.scr.2020.101815

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