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

Stem Cell Research (Oct 2020)

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

Affiliations

Ji-Zhen Lu: Translational Medical Center for Stem Cell Therapy, Shanghai East Hospital, Tongji University School of Life Sciences and Technology, Shanghai 200120, China
Lu Zhang: Translational Medical Center for Stem Cell Therapy, Shanghai East Hospital, Tongji University School of Life Sciences and Technology, Shanghai 200120, China
Han-yu Zhu: Translational Medical Center for Stem Cell Therapy, Shanghai East Hospital, Tongji University School of Life Sciences and Technology, Shanghai 200120, China
Yi-yao Qi: Translational Medical Center for Stem Cell Therapy, Shanghai East Hospital, Tongji University School of Life Sciences and Technology, Shanghai 200120, China
Zhi-hui Bai: Translational Medical Center for Stem Cell Therapy, Shanghai East Hospital, Tongji University School of Life Sciences and Technology, Shanghai 200120, China
Wen-Wen Jia: Corresponding authors.; Translational Medical Center for Stem Cell Therapy, Shanghai East Hospital, Tongji University School of Life Sciences and Technology, Shanghai 200120, China
Zhong-Min Liu: Corresponding authors.; Translational Medical Center for Stem Cell Therapy, Shanghai East Hospital, Tongji University School of Life Sciences and Technology, Shanghai 200120, China

Journal volume & issue: Vol. 48
p. 101932

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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