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

Stem cell research - 1 Oct 2020

Lu Ji-Zhen, Zhang Lu, Zhu Han-Yu, Qi Yi-Yao, Bai Zhi-Hui, Jia Wen-Wen, Liu Zhong-Min

Abstract excerpt

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.

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Identifiers

PMID: 32889247
DOI: 10.1016/j.scr.2020.101932

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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