June 2023
Volume 64, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2023
Identification of cell heterogeneity by single-cell RNA-sequencing as a data-driven strategy for improving limbal stem cell differentiation from pluripotent stem cells
Author Affiliations & Notes
  • Meri Hilja Maria Vattulainen
    Faculty of Medicine and Health Technology, Tampereen yliopisto, Tampere, Pirkanmaa, Finland
  • Jos Smits
    Department of Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud Universiteit, Nijmegen, Gelderland, Netherlands
  • Dulce Lima Cunha
    Department of Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud Universiteit, Nijmegen, Gelderland, Netherlands
  • Tanja Ilmarinen
    Faculty of Medicine and Health Technology, Tampereen yliopisto, Tampere, Pirkanmaa, Finland
  • Huiqing Zhou
    Department of Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud Universiteit, Nijmegen, Gelderland, Netherlands
  • Heli Skottman
    Faculty of Medicine and Health Technology, Tampereen yliopisto, Tampere, Pirkanmaa, Finland
  • Footnotes
    Commercial Relationships   Meri Vattulainen StemSight Oy, Code P (Patent); Jos Smits None; Dulce Lima Cunha None; Tanja Ilmarinen StemSight Oy, Code E (Employment), StemSight Oy, Code O (Owner), StemSight Oy, Code P (Patent); Huiqing Zhou None; Heli Skottman StemSight Oy, Code O (Owner), StemSight Oy, Code P (Patent)
  • Footnotes
    Support  This work has been supported by the Academy of Finland (338988, MV, TI, HS); NWO-ALW (ALWOP 376, JS, HZ); EJP-RD (JPRD20-135, DLC, HZ) and COST Consortium ANIRIDIA-NET (CA18116, all authors). The presenting author has also been supported by personal grants from the Finnish Eye and Tissue Bank Foundation, the Mary & Georg Ehrnrooth Foundation, the Ella & Georg Ehrnrooth Foundation and the Evald & Hilda Nissi Foundation.
Investigative Ophthalmology & Visual Science June 2023, Vol.64, 2346. doi:
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    • Get Citation

      Meri Hilja Maria Vattulainen, Jos Smits, Dulce Lima Cunha, Tanja Ilmarinen, Huiqing Zhou, Heli Skottman; Identification of cell heterogeneity by single-cell RNA-sequencing as a data-driven strategy for improving limbal stem cell differentiation from pluripotent stem cells. Invest. Ophthalmol. Vis. Sci. 2023;64(8):2346.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Human pluripotent stem cell (hPSC)-based corneal cell therapies are in demand to reduce dependence on donor tissue and to increase patients’ access to curative treatments. We carried out serial single-cell RNA-sequencing (scRNAseq) to obtain in-depth knowledge of heterogenous populations arising from our feeder-free differentiation of hPSCs towards limbal stem cells (LSCs). Deep-phenotyping of cell heterogeneity helps to further define relevant hPSC-LSC subpopulations and may serve as a data-driven strategy to facilitate their progression towards clinical translation.

Methods : Three genetically independent hPSC lines were subjected to corneal differentiation with a previously established protocol. scRNAseq was performed on samples collected from undifferentiated hPSCs (D0) and differentiating cells at day 10 (D10) and 24 (D24), using a modified SORT-seq-protocol. Raw sequencing data were preprocessed, followed by quality control filtering, yielding a dataset of 4737 high-quality cells. Standard analyses, including dimensionality reduction, Louvain clustering and detection of high variable genes, were utilized to identify cell clusters and differentially expressed marker genes between the clusters.

Results : scRNAseq analysis identified eight distinct clusters which were annotated according to their temporal and transcriptomic identity. The identified main clusters confirmed our previously published findings, presenting a uniform cluster of undifferentiated hPSCs at D0, a transient epithelial cluster at D10, and an LSC-like cluster at D24. Additionally, among cells collected on different days, we detected heterogeneous cell populations, consisting of one transient and two persisting mesodermal clusters as well as persisting PSC-like and further differentiated LSC-like cells. These off-target populations were more pronounced within the induced versus embryonic lines. The identified cell populations were confirmed via detection of cluster-specific markers in immunofluorescence and flow cytometry.

Conclusions : The molecular deep-phenotyping by scRNAseq provided further insight to the hPSC-LSC population heterogeneity. Further analyses on the cell identity and the drivers of cell heterogeneity act as a data-driven strategy for improving both the general and cell line-specific differentiation protocols.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.

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