Generation of a human induced pluripotent stem cell line from a patient with dent disease
Summary
Dent disease, an X-linked tubular disorder, is a rare condition that leads to low-molecular-weight proteinuria, hypercalciuria, kidney stones, and chronic kidney disease. Here, we successfully established a human induced pluripotent stem cells (hiPSC) line from peripheral blood mononuclear cells of 10-year-old male with Dent disease 1 caused by the mutation of Chloride Voltage-Gated Channel 5 gene. This hiPSCs displayed features similar to human embryonic stem cells, including pluripotency-associated markers expression, normal karyotype, and the ability to differentiate into cells representing all three germ layers. The implications of this research extend to the potential development of novel treatments for Dent disease. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Fang X, Kim JH, Cui S, Shin YJ, Lee H, Ko EJ, Cheong HI, Kim S, Kim HS, Kim M, Yang CW, Lim SW, Chung BH |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Sep;71:103140 |
| PubMed | 37356184 |
| DOI | 10.1016/j.scr.2023.103140 |