Generation of the induced pluripotent stem cell line (NCKDi004-A) from a 17-year-old patient with Alport syndrome carrying a homozygous mutation in COL4A3 gene
Summary
Alport syndrome is the second most common genetic renal disease which caused by mutations in COL4A3/COL4A4/COL4A5, according to different modes of inheritance. Recently, we identified a novel homozygous mutation in COL4A3 gene in a patient with Alport syndrome. The Peripheral Blood Mononuclear Cells (PBMCs) of the patient were obtained and a line of induced pluripotent stem cells (iPSCs) was successfully generated. The iPSC line will be useful for further study of the pathogenesis and drug screening for Alport syndrome. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Wu H, Wang G, Gao E, Zhang L, Zhu Y, Zhang J, Liu Z |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Oct;56:102557 |
| PubMed | 34626894 |
| DOI | 10.1016/j.scr.2021.102557 |