An induced pluripotent stem cell line (SJTUXHi003-A) derived from a patient with copy number variation in the gene LRP5 causing familial exudative vitreoretinopathy
Summary
Familial exudative vitreoretinopathy (FEVR) is an inherited disease of retinal vascular development, and mutations in the LRP5 gene are associated with this disease. In this study, we generated a new induced pluripotent stem cell (iPSC) line, SJTUXHi003-A, from a patient with a novel copy number variation (CNV), exons 19-21 deletion in LRP5. This iPSC line exhibited a normal male karyotype with positive pluripotency markers, and could differentiate into three germ layers in vitro, providing a valuable model for studying the pathological mechanism of FEVR in vitro. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Lin M, Luo J, Liu MM, Chen YQ, Zhao PQ, Fei P |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Feb;90:103890 |
| PubMed | 41496279 |
| DOI | 10.1016/j.scr.2025.103890 |