Evidence map›Paper›PMID 39930180›Full record

ArticleAdvances in experimental medicine and biology2025

Prime Editing Strategy to Install the RPE65 c.1430A>G Dominant Mutation.

Bruna Lopes da Costa, Salvatore Marco Caruso, Yi-Ting Tsai, David S Castillejos, Mohamed Sylla, Stephen H Tsang, Peter M J Quinn

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In one paragraph

Article in Advances in experimental medicine and biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Bruna Lopes da Costa *Department of Biomedical Engineering, Columbia University, New York, NY, USA.
Salvatore Marco Caruso *Department of Biomedical Engineering, Columbia University, New York, NY, USA.
Yi-Ting Tsai *Department of Biomedical Engineering, Columbia University, New York, NY, USA.
David S CastillejosJonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, Columbia University, New York, NY, USA.
Mohamed SyllaJonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, Columbia University, New York, NY, USA.
Stephen H TsangDepartment of Biomedical Engineering, Columbia University, New York, NY, USA.
Peter M J QuinnDepartment of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA. peter.quinn1@pennmedicine.upenn.edu.

Funding

Vision Sciences Training GrantT32EY013933 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Carol A. Mason, CAROL M TROY · 2001 to 2026
$5.3M
NEI NIH HHS T32 EY013933
6 · The paper itself

Abstract

The retinal pigment epithelium 65-kDa protein (RPE65) is a retinal isomerase that is an essential component of the visual cycle. Mutations in RPE65 are typically associated with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. Here, we report on a patient with RPE65-mediated autosomal dominant retinitis pigmentosa (adRP) who has widespread chorioretinal atrophy with significant macular involvement and only small areas of retinal preservation. In future studies, we plan to model the pathobiology of RPE65-mediated adRP using induced pluripotent stem cell (iPSC)-derived RPE. To effectively model rare mutations using iPSC-derived RPE and screen gene editing correction approaches, we require a strategy to install the desired mutation in wild-type iPSC and HEK293T. In this study, we developed a prime editing strategy for the installation of the pathogenic RPE65 c.1430A>G mutation underlying our patient's disease.

Indexed as

cis-trans-IsomerasesGene EditingMutationRetinitis PigmentosaCRISPR-Cas SystemsGenes, DominantHEK293 CellsHumansInduced Pluripotent Stem CellsRetinal Pigment EpitheliumRetinoid Isomerohydrolasecis-trans-IsomerasesRetinoid IsomerohydrolaseAutosomal dominant retinitis pigmentosa (adRP)Prime editingRPE65

Identifiers

PMID39930180

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.