Stem Cell Research (May 2020)

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

  • Yutaka Arai,
  • Miho Takami,
  • Yuri An,
  • Mami Matsuo-Takasaki,
  • Yasuko Hemmi,
  • Tamami Wakabayashi,
  • Jun Inoue,
  • Michiya Noguchi,
  • Yukio Nakamura,
  • Keisuke Sugimoto,
  • Tsukasa Takemura,
  • Keisuke Okita,
  • Kenji Osafune,
  • Minoru Takasato,
  • Tadayoshi Hayata,
  • Yohei Hayashi

Journal volume & issue
Vol. 45

Abstract

Read online

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.