Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC lines
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.
Authors
- Isabelle S. Audo (ORCID: https://orcid.org/0000-0003-0698-5309)
- Juliette Wohlschlegel (ORCID: https://orcid.org/0000-0003-4317-9066)
- Tasnim Ben Yacoub (ORCID: https://orcid.org/0009-0003-1199-2682)
- Vincenzo Degaetano
- Cécile Méjécase (ORCID: https://orcid.org/0000-0003-2532-4004)
- Leila Azizzadeh Pormehr (ORCID: https://orcid.org/0000-0002-7402-7244)
- Olivier Goureau (ORCID: https://orcid.org/0000-0001-7730-9143)
- Christina Zeitz (ORCID: https://orcid.org/0000-0002-3510-1712)
- Christel Condroyer (ORCID: https://orcid.org/0009-0000-6189-0906)
- Amélie Slembrouck-Brec
- Camille Letellier
- Andréa Amprou
Institutions
- Centre National de la Recherche Scientifique (FR)
- Institut de la Vision (FR)
- Inserm (FR)
- Sorbonne Université (FR)
- University College London (GB)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2024-09-12
- DOI
- https://doi.org/10.1016/j.scr.2024.103558
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Foundation Fighting Blindness
- Agence Nationale de la Recherche