← BioTransfer GEO Dataset Finder
GEO series

Single-cell Sequencing of ABCA4-Mutant Human Retinal Organoids Reveals Organoids Application in Modeling Inherited Retinal Diseases

GSE266191 Homo sapiens Expression profiling by high throughput sequencing 6 samples Submitted 2025/09/01 Platform GPL16791
Summary
In the studies of Inherited Retinal Diseases (IRDs), the knockout of traditional animal models like mice often fails to accurately replicate human phenotypes due to genetic and anatomical differences. Human retinal organoids (ROs) derived from stem cells have emerged as promising developmental models in retinal studies to delineate cell growth, but their ability to represent the characteristics of late-onset IRDs remains unclear. This study aims to validate ROs as a disease model for Stargardt's Disease (STGD) caused by Abca4 mutations. Using single-cell RNA sequencing, ROs from 2 STGD patients were compared with unaffected ROs at two developmental stages on both the cellular and transcriptomic levels. The results from gene-level comparisons show promising evidence that ROs successfully capture the underlying molecular variations between patient and control samples even at the early developmental stage, providing the potential of applying ROs to facilitate the study of IRDs and late-onset neurodegenerative diseases.
Published in
ABCA4-mutant human retinal organoids sequencing reveals organoids application in inherited retinal diseases
Bao Y, Soh S, Li J et al. · Experimental eye research 2025 · PMID 41038369 · doi:10.1016/j.exer.2025.110677
This dataset
Download

Direct links to NCBI, no account and no request form: the whole study as GSE266191_RAW.tar, processed values as the series matrix, the supplementary file directory, and per-sample supplementary files for any of the 6 samples. Raw sequencing reads are also available from ENA.

Also filed as BioProject PRJNA1106186 and SRA study SRP504802. Searching any of these in the dataset finder brings you back here.

Samples in this study

The sample list for this study is not cached yet. Press Sort into groups and it will be fetched from NCBI.

+ 6 more — browse all 6 samples with per-sample file links →

Similar datasets

Search all human RNA-seq datasets in GEO →

Share this dataset

Metadata from NCBI GEO, cached and refreshed periodically — the NCBI page above is authoritative. Downloads link straight to NCBI/ENA; nothing is proxied through BioTransfer.