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Updated: Jun 12, 2025

Generation of Retinal Organoids from Healthy and Retinal Disease-Specific Human-Induced Pluripotent Stem Cells
Published on: December 9, 2022
Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and
Andréa Amprou1, Tasnim Ben Yacoub1, Camille Letellier1
1Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
Abstract:
A Human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a patient affected with an autosomal recessive retinal dystrophy carrying the homozygous c.910-7G>A variant in UBAP1L. Three isogenic control iPSC lines derived from this affected subject line were created using CRISPR/Cas9 engineering. All iPSC lines expressing the pluripotency markers, were able to differentiate into the three germ layers, and exhibit a normal karyotype. These cellular models will provide a powerful tool to study disease mechanisms associated with the recently reported UBAP1L- associated retinal dystrophy and better understand the role of the protein in retinal physiology.
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