Generation of an isogenic human induced pluripotent stem cell line for spinocerebellar ataxia type 1
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by an expanded CAG repeat in exon 8 of the ATXN1 gene. In this study, an isogenic human induced pluripotent stem (hiPS) cell SCA1 line was generated using CRISPR/Cas9 genome editing. Characterization revealed an expanded repeat containing 54 CAG repeats in one allele and an unmodified second allele. The isogenic hiPS cell line showed a typical hiPS cell morphology, expressed pluripotency markers and was able to differentiate into all three germ layers.
Authors
- Ronald A.M. Buijsen
- Laurie M.C. Kerkhof
- Eric A. Reits (ORCID: https://orcid.org/0000-0003-2258-5639)
- Bas J. B. Voesenek (ORCID: https://orcid.org/0000-0002-5205-3222)
- Barry A. Pepers
- Linda M. van der Graaf (ORCID: https://orcid.org/0000-0001-6079-5376)
- Willeke M.C. van Roon-Mom
- Angela Santiago-Aranda
Institutions
- Loyola University Medical Center (US)
- Amsterdam UMC Location University of Amsterdam (NL)
- Centre for Human Drug Research (NL)
- Amsterdam University Medical Centers (NL)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2026-04-13
- DOI
- https://doi.org/10.1016/j.scr.2026.103987
- Primary Topic
- Pluripotent Stem Cells Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- ZonMw