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Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids.

Stem cell reports - 9 Feb 2021

Kruczek Kamil, Qu Zepeng, Gentry James, Fadl Benjamin R, Gieser Linn, Hiriyanna Suja, Batz Zachary, Samant Mugdha, Samanta Ananya, Chu Colin J, Campello Laura, Brooks Brian P, Wu Zhijian, Swaroop Anand

Abstract excerpt

Mutations in the photoreceptor transcription factor gene cone-rod homeobox (CRX) lead to distinct retinopathy phenotypes, including early-onset vision impairment in dominant Leber congenital amaurosis (LCA). Using induced pluripotent stem cells (iPSCs) from a patient with CRX-I138fs48 mutation, we established an in vitro model of CRX-LCA in retinal organoids that showed defective photoreceptor maturation by...

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Dependovirus
Induced Pluripotent Stem Cells
Leber Congenital Amaurosis
Opsins
Organoids

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Photoreceptor Cells

Single-Cell Analysis

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PMID: 33513359
DOI: 10.1016/j.stemcr.2020.12.018
PMCID: PMC7878833

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