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

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

doi:10.1016/j.scr.2020.101932

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 Res. 2020 Oct:48:101932. doi: 10.1016/j.scr.2020.101932. Epub 2020 Jul 30.

Authors

Ji-Zhen Lu¹, Lu Zhang¹, Han-Yu Zhu¹, Yi-Yao Qi¹, Zhi-Hui Bai¹, Wen-Wen Jia², Zhong-Min Liu³

Affiliations

¹ Translational Medical Center for Stem Cell Therapy, Shanghai East Hospital, Tongji University School of Life Sciences and Technology, Shanghai 200120, China.
² Translational Medical Center for Stem Cell Therapy, Shanghai East Hospital, Tongji University School of Life Sciences and Technology, Shanghai 200120, China. Electronic address: wuj3@tongji.edu.cn.
³ Translational Medical Center for Stem Cell Therapy, Shanghai East Hospital, Tongji University School of Life Sciences and Technology, Shanghai 200120, China. Electronic address: liu.zhongmin@tongji.edu.cn.

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

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Familial Exudative Vitreoretinopathies
Frizzled Receptors / genetics
Humans
Induced Pluripotent Stem Cells*
Infant, Newborn
Mutation
Pedigree

Substances

FZD4 protein, human
Frizzled Receptors