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Stem Cells. 2018 Apr;36(4):474-481. doi: 10.1002/stem.2783. Epub 2018 Feb 7.

Concise Review: Human Induced Pluripotent Stem Cell Models of Retinitis Pigmentosa.

Author information

1
Stem Cells Therapies in Neurodegenerative Diseases Lab, Research Center "Principe Felipe", Valencia, Spain.
2
National Stem Cell Bank-Valencia Node, Biomolecular and Bioinformatics Resources Platform PRB2, ISCIII, Research Center "Principe Felipe", Valencia, Spain.
3
Institute of Experimental Medicine, Department of Tissue Cultures and Stem Cells, Czech Academy of Sciences, Prague, Czech Republic.

Abstract

Hereditary retinal dystrophies, specifically retinitis pigmentosa (RP) are clinically and genetically heterogeneous diseases affecting primarily retinal cells and retinal pigment epithelial cells with blindness as a final outcome. Understanding the pathogenicity behind these diseases has been largely precluded by the unavailability of affected tissue from patients, large genetic heterogeneity and animal models that do not faithfully represent some human diseases. A landmark discovery of human induced pluripotent stem cells (hiPSCs) permitted the derivation of patient-specific cells. These cells have unlimited self-renewing capacity and the ability to differentiate into RP-affected cell types, allowing the studies of disease mechanism, drug discovery, and cell replacement therapies, both as individual cell types and organoid cultures. Together with precise genome editing, the patient specific hiPSC technology offers novel strategies for targeting the pathogenic mutations and design therapies toward retinal dystrophies. This study summarizes current hiPSC-based RP models and highlights key achievements and challenges of these cellular models, as well as questions that still remain unanswered. Stem Cells 2018;36:474-481.

KEYWORDS:

Differentiation; Gene targeting; Induced pluripotent stem; Induced pluripotent stem cells; Retina; Retinal photoreceptors; Retinal pigmented epithelium

PMID:
29345014
DOI:
10.1002/stem.2783
[Indexed for MEDLINE]

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