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.

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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
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article

Generation of eight human induced pluripotent stem cells lines from patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

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Stem Cell Research
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article

Generation of eight human induced pluripotent stem cells lines from patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

Sabrina Bellenfant, Mathieu Blais, Nicolas Dupré, Laurie Martineau, Vincent Roy, François Gros-Louis
article en

Abstract

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.

Stem Cell ResearchVol. 91
Centre hospitalier de l'Université Laval (CA), Université Laval (CA)
Good health and well-being
Openalex Percentile: Top 38%
Genetic Neurodegenerative Diseases
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