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Article

Human iPSC Modeling Reveals Mutation-Specific Responses to Gene Therapy in a Genotypically Diverse Dominant Maculopathy.

American journal of human genetics - 6 Aug 2020

Sinha Divya, Steyer Benjamin, Shahi Pawan K, Mueller Katherine P, Valiauga Rasa, Edwards Kimberly L, Bacig Cole, Steltzer Stephanie S, Srinivasan Sandhya, Abdeen Amr, Cory Evan, Periyasamy Viswesh, Siahpirani Alireza Fotuhi, Stone Edwin M, Tucker Budd A, Roy Sushmita, Pattnaik Bikash R, Saha Krishanu, Gamm David M

Abstract excerpt

Dominantly inherited disorders are not typically considered to be therapeutic candidates for gene augmentation. Here, we utilized induced pluripotent stem cell-derived retinal pigment epithelium (iPSC-RPE) to test the potential of gene augmentation to treat Best disease, a dominant macular dystrophy caused by over 200 missense mutations in BEST1. Gene augmentation in iPSC-RPE fully restored BEST1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32707085
DOI: 10.1016/j.ajhg.2020.06.011
PMCID: PMC7413860

Genes

RPE
BEST1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Human iPSC Modeling Reveals Mutation-Specific Responses to Gene Therapy in a Genotypically Diverse Dominant Maculopathy.PMID 32707085Read ↗

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BEST1: the Best Target for Gene and Cell TherapiesSemantic proximity Read ↗

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations.Semantic proximity Read ↗

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