ArticleScientific data2025
Longitudinal scRNA-seq of retinal organoids derived from Stargardt disease patient with ABCA4 mutation.
Article in Scientific data, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Loss of ABCA4 from photoreceptor discs is associated with glial transcriptomic changes in retinal organoids.Stem cells (Dayton, Ohio) · 2026Article
- Engineering Human Retinal Organoids and Eye-on-a-Chip Models for Degenerative Eye Disease.ACS biomaterials science & engineering · 2026Review
- Organoids for disease modeling and treatment: state-of-the-art.Experimental hematology & oncology · 2026Review
- Single-Cell Transcriptomics in Inherited Retinal Dystrophies: Current Findings and Emerging Perspectives.Genes · 2025Review
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Authors and funding
7 authors.
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Abstract
Stargardt disease (STGD), predominantly caused by mutations in the ABCA4 gene, is a leading cause of inherited retinal degeneration. Although several lines of mice expressing disease-causing variants have been produced, mice due to the lack of macular may not be the perfect model to mimic the characteristics of STGD. To address this knowledge gap, we generated retinal organoids from patient-derived induced pluripotent stem cells (iPSCs) harboring ABCA4 mutations and performed biological validation. The generated retinal organoids were subjected to single-cell RNA sequencing (scRNA-seq) at major developmental stages (40, 90, 150, 200, and 260 days), and we additionally compared the transcriptomics with our recently published control retinal organoids to further confirm the reliability of the dataset. By using iPSCs carrying most common variant in Chinese STGD patients, the dataset not only provides a powerful resource for studying STGD, but also offers novels insight into the developmental mechanisms underlying ABCA4-associated pathological changes in the retinal organoid system.
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