Cited by 665Retinal Development and DisordersSingle-cell and spatial transcriptomicsRetinal Diseases and Treatments

The DOI matches its Crossref record; 95 of the 95 references it cites were found in a registry or an index.

Cell Types of the Human Retina and Its Organoids at Single-Cell Resolution

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Abstract

Human organoids recapitulating the cell-type diversity and function of their target organ are valuable for basic and translational research. We developed light-sensitive human retinal organoids with multiple nuclear and synaptic layers and functional synapses. We sequenced the RNA of 285,441 single cells from these organoids at seven developmental time points and from the periphery, fovea, pigment epithelium and choroid of light-responsive adult human retinas, and performed histochemistry. Cell types in organoids matured in vitro to a stable "developed" state at a rate similar to human retina development in vivo. Transcriptomes of organoid cell types converged toward the transcriptomes of adult peripheral retinal cell types. Expression of disease-associated genes was cell-type-specific in adult retina, and cell-type specificity was retained in organoids. We implicate unexpected cell types in diseases such as macular degeneration. This resource identifies cellular targets for studying disease mechanisms in organoids and for targeted repair in human retinas.

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Crossref · 10.1016/j.cell.2020.08.013

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Authors
Cowan, C. S., Renner, M., De Gennaro, M., Gross-Scherf, B., Goldblum, D., Hou, Y., Munz, M., Rodrigues, T. M., Krol, J., Szikra, T., Cuttat, R., Waldt, A., Papasaikas, P., Diggelmann, R., Patino-Alvarez, C. P., Galliker, P., Spirig, S. E., Pavlinic, D., Gerber-Hollbach, N., Schuierer, S., Srdanovic, A., Balogh, M., Panero, R., Kusnyerik, A., Szabo, A., Stadler, M. B., Orgül, S., Picelli, S., Hasler, P. W., Hierlemann, A., Scholl, H. P. N., Roma, G., Nigsch, F., & Roska, B.
Affiliations
  • Institute of Molecular and Clinical Ophthalmology Basel (CH)
  • University of Basel (CH)
  • Novartis Institutes for BioMedical Research (CH)
  • SIB Swiss Institute of Bioinformatics (CH)
  • ETH Zurich (CH)
  • Friedrich Miescher Institute (CH)
  • Johns Hopkins University (US)
  • Novartis (Switzerland) (CH)
Corresponding author
  • Roma, Guglielmo
  • Nigsch, Florian
  • Roska, Botond
Venue
Cell
Publisher
Elsevier BV
Published
2020-09
Volume
182
Issue
6
Pages
1623-1640.e34
ISSN
0092-8674 (ISSN-L)
OpenAlex
W3087102910
Cited by
654
References
94
Citations by year
2026: 79 · 2025: 118 · 2024: 118 · 2023: 113 · 2022: 123 · 2021: 74 · 2020: 23
FWCI
26.98
Type
journal article
Language
en
Open access
Locations
  • Cell (publishedVersion, cc-by)
  • bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • The Novartis Repository (Novartis) (submittedVersion, cc-by)
  • Repository for Publications and Research Data (ETH Zurich) (submittedVersion, cc-by)
  • ETH Zürich Research Collection (cc-by)
Funders
European Research Council
Topics
  • Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Single-cell and spatial transcriptomics
  • Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Keywords
retinal cell types, single-cell transcriptomics, retinal development, photosensitivity, retinal pigment epithelium, choroid, fovea, macular degeneration, cell type specificity, retinal repair
MeSH terms
Cell Differentiation, Cell Line, Electrophysiology, Female, Multigene Family, Humans, Microscopy, Electron, Naphthoquinones, Organoids, Retina, Synapses, In Situ Hybridization, Gene Expression Regulation, Developmental, Cell Culture Techniques, Genetic Predisposition to Disease, Induced Pluripotent Stem Cells, Single-Cell Analysis, Transcriptome

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