An induced pluripotent stem cell line (EHTJUi002-A) derived from a neonate with c.678G>A mutation in the gene FZD4 causing exudative vitreoretinopathy
Summary
Familial exudative vitreoretinopathy (FEVR) is an autosomal dominant genetic disease. An induced pluripotent stem cell line (EHTJUi002-A) was generated from umbilical cord blood mononuclear cells (UCBMCs) of a neonate with heterozygous mutation of p.W226X(c.678G>A) in the FZD4 gene. This iPSC model offers a very valuable resource to study the pathological mechanism of FEVR in vitro. Copyright © 2020. Published by Elsevier B.V.
| Authors | Lu JZ, Zhang L, Zhu HY, Qi YY, Bai ZH, Jia WW, Liu ZM |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Oct;48:101932 |
| PubMed | 32889247 |
| DOI | 10.1016/j.scr.2020.101932 |