Generation of eight human induced pluripotent stem cells lines from patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited neurodegenerative disorder causing progressive spasticity, ataxia and peripheral neuropathy, leading to significant motor and sensory impairments. To advance the study of ARSACS pathogenesis and therapeutic development, we generated eight induced pluripotent stem cell (iPSC) lines from patient-derived fibroblasts or peripheral blood mononuclear cells (PBMCs) using non-integrating Sendai virus-based reprogramming method and covering four different SACS gene mutations. These iPSC lines provide a powerful platform to investigate disease mechanisms, evaluate therapeutic candidates, and support the development of personalized medicine approaches for ARSACS.
Authors
- Sabrina Bellenfant
- Mathieu Blais (ORCID: https://orcid.org/0009-0001-9102-378X)
- Nicolas Dupré
- Laurie Martineau
- Vincent Roy (ORCID: https://orcid.org/0000-0003-2583-6376)
- François Gros-Louis
Institutions
- Centre hospitalier de l'Université Laval (CA)
- Université Laval (CA)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-12-24
- DOI
- https://doi.org/10.1016/j.scr.2025.103894
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00