Generation of human iPS cell line IBCHi002-A from spinocerebellar ataxia type 3/Machado-Joseph disease patient's fibroblasts
Agata Ciołak, Włodzimierz J. Krzyżosiak, Emilia Kozłowska, Agnieszka Fiszer
Abstract
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is autosomal-dominant neurodegenerative disease caused by an expansion of polyglutamine-encoding CAG repeats in the ATXN3 gene. Here we established IBCHi002-A induced pluripotent stem cells (iPSCs) line generated from SCA3 patient fibroblasts by using non-integrative Sendai-virus delivery system of four reprogramming factors. This cellular model provides a valid platform for study SCA3 pathogenesis and potential therapies for this so far incurable disease.
Topics & Concepts
Spinocerebellar ataxiaMachado–Joseph diseaseReprogrammingSendai virusInduced pluripotent stem cellBiologyTrinucleotide repeat expansionCell cultureDiseaseGeneticsCell biologyGeneEmbryonic stem cellInternal medicineMedicineAlleleGenetic Neurodegenerative DiseasesMitochondrial Function and PathologyDNA Repair Mechanisms