Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC lines
- PMID: 39293306
- DOI: 10.1016/j.scr.2024.103558
Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC lines
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.
Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
Conflict of interest statement
Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Isabelle Audo and Christina Zeitz reports financial support was provided by French National Research Agency. Isabelle Audo and Christina Zeitz reports financial support was provided by IHU FOReSIGHT. Isabelle Audo and Christina Zeitz reports financial support was provided by Foundation Fighting Blindness center. Isabelle Audo and Christina Zeitz reports financial support was provided by UNADEV. Andrea Amprou reports financial support was provided by Ministry of Higher Education and Scientific Research. Tasnim Ben Yacoub reports financial support was provided by Foundation of France. Olivier Goureau has patent #EP2WO2018149985 licensed to Licensee. Olivier Goureau and Amelie Slembrouck are inventors on patent (EP2WO2018149985) on hiPSC retinal differentiation and on the use of hiPSC retinal derivatives to treat retinal degeneration, licensed to Tennpoint Tx. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
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