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

Autor:	Han-Yu Zhu, Zhong-Min Liu, Zhi-Hui Bai, Yi-Yao Qi, Lu Zhang, Wen-Wen Jia, Ji-Zhen Lu
Rok vydání:	2020
Předmět:	0301 basic medicine FZD4 Familial Exudative Vitreoretinopathies Induced Pluripotent Stem Cells Biology medicine.disease_cause Umbilical cord Peripheral blood mononuclear cell 03 medical and health sciences 0302 clinical medicine medicine Humans Induced pluripotent stem cell lcsh:QH301-705.5 Gene Mutation Infant Newborn Cell Biology General Medicine medicine.disease Frizzled Receptors In vitro Pedigree 030104 developmental biology medicine.anatomical_structure lcsh:Biology (General) Cancer research Familial exudative vitreoretinopathy 030217 neurology & neurosurgery Developmental Biology
Zdroj:	Stem Cell Research, Vol 48, Iss, Pp 101932-(2020)
ISSN:	1873-5061
DOI:	10.1016/j.scr.2020.101932
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a05fbccdd463ab7b85becb1948396d7f https://doi.org/10.1016/j.scr.2020.101932 Zobrazit plný text záznamu