An induced pluripotent stem cell line (EHTJUi002-A) derived from a neonate with c.678G>A mutation in the gene FZD4 causing exudative vitreoretinopathy


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

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