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Updated: Apr 20, 2026

Conversion of Human Induced Pluripotent Stem Cells iPSCs into Functional Spinal and Cranial Motor Neurons Using PiggyBac Vectors
Published on: May 1, 2019
Generation of an isogenic human induced pluripotent stem cell line for spinocerebellar ataxia type 1
Laurie M C Kerkhof1, Barry A Pepers2, Linda M van der Graaf2
1Department of Human Genetics, Leiden, The Netherlands; Dutch Center for RNA Therapeutics, LUMC, Leiden, The Netherlands.
Abstract:
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.
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