title: Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11.
abstract: Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a CAG-repeat expanding mutation in ATXN3. We generated induced pluripotent stem cells (iPSCs) from a SCA3 patient by electroporation of dermal fibroblasts with episomal plasmids encoding L-MYC, LIN28, SOX2, KLF4, OCT4 and short hairpin RNA targeting P53. The resulting iPSCs had normal karyotype, were free of genomically integrated episomal plasmids, expressed pluripotency markers, could differentiate into the three germ layers in vitro and retained the disease-causing ATXN3 mutation. This iPSC line could be useful for the investigation of SCA3 disease mechanisms.
authors.affiliation: Department of Veterinary Clinical and Animal Sciences, University of Copenhagen, Groennegårdsvej 7, 1870 Frb C, Denmark; H. Lundbeck A/S, Ottiliavej 9, Valby 2500, Denmark.
authors.forename: Susanne K
authors.initials: SK
authors.lastname: Hansen
authors.affiliation: H. Lundbeck A/S, Ottiliavej 9, Valby 2500, Denmark.
authors.forename: Helena
authors.initials: H
authors.lastname: Borland
authors.affiliation: Institute of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3B, 2200 N, Denmark.
authors.forename: Lis F
authors.initials: LF
authors.lastname: Hasholt
authors.affiliation: Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, Glostrup 2600, Denmark.
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
authors.affiliation: Institute of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3B, 2200 N, Denmark; Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen, Denmark.
authors.forename: Jørgen E
authors.initials: JE
authors.lastname: Nielsen
authors.affiliation: Bioneer A/S, Kogle Alle 2, 2970 Hoersholm, Denmark.
authors.forename: Mikkel A
authors.initials: MA
authors.lastname: Rasmussen
authors.affiliation: Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen, Denmark.
authors.forename: Troels T
authors.initials: TT
authors.lastname: Nielsen
authors.affiliation: H. Lundbeck A/S, Ottiliavej 9, Valby 2500, Denmark.
authors.forename: Tina C
authors.initials: TC
authors.lastname: Stummann
authors.affiliation: H. Lundbeck A/S, Ottiliavej 9, Valby 2500, Denmark.
authors.forename: Karina
authors.initials: K
authors.lastname: Fog
authors.affiliation: Department of Veterinary Clinical and Animal Sciences, University of Copenhagen, Groennegårdsvej 7, 1870 Frb C, Denmark.
authors.forename: Poul
authors.initials: P
authors.lastname: Hyttel
mesh_terms: D000293:Adolescent; D000067699:Ataxin-3 / Q000235:genetics; D002454:Cell Differentiation; D002478:Cells, Cultured; D065150:Cellular Reprogramming; D005347:Fibroblasts / Q000166:cytology; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D007621:Karyotyping; D000090062:Kruppel-Like Factor 4; D017827:Machado-Joseph Disease / Q000378:metabolism / Q000473:pathology*; D008297:Male; D010957:Plasmids / Q000378:metabolism; D034741:RNA, Small Interfering / Q000378:metabolism; D016601:RNA-Binding Proteins / Q000235:genetics / Q000378:metabolism; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D016159:Tumor Suppressor Protein p53 / Q000037:antagonists & inhibitors / Q000235:genetics / Q000378:metabolism
chemical_list: C000715467:KLF4 protein, human; D000090062:Kruppel-Like Factor 4; C000715187:Lin28A protein, human; D034741:RNA, Small Interfering; D016601:RNA-Binding Proteins; D014157:Transcription Factors; D016159:Tumor Suppressor Protein p53; D000067699:Ataxin-3