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Investigation of the molecular pathology of oculogenesis regulator, PAX6, through patient-derived hiPSC optic vesicles with (i) haploinsufficiency-related aniridia and (ii) missense-associated microphthalmia. Transcriptomic analysis reveals variant-specific disruption to SOX2-mediated Notch-signalling perturbing proliferation and differentiation, uncovering a mechanism for PAX6-associated microphthalmia.

The homeostasis of the transparent corneal epithelium in the eye is maintained by limbal stem cells with proper cell fates. A potential disease mechanism underlying corneal opacity has been proposed to be limbal stem cells acquiring characteristics of keratinocytes of the non-transparent epidermis. We performed a multi-omics analysis of human limbal stem cells derived from the cornea and keratinocytes from the epidermis, and characterized their similar yet distinct molecular signatures.

This protocol details the step-by-step procedures followed to process zebrafish retinal mRNA sequencing data generated by the SMARTSeq2 …