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Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11.
Hansen, Susanne K; Borland, Helena; Hasholt, Lis F; Tümer, Zeynep; Nielsen, Jørgen E; Rasmussen, Mikkel A; Nielsen, Troels T; Stummann, Tina C; Fog, Karina; Hyttel, Poul.
Affiliation
  • Hansen SK; 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.
  • Borland H; H. Lundbeck A/S, Ottiliavej 9, Valby 2500, Denmark.
  • Hasholt LF; Institute of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3B, 2200 N, Denmark.
  • Tümer Z; Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, Glostrup 2600, Denmark.
  • Nielsen JE; 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.
  • Rasmussen MA; Bioneer A/S, Kogle Alle 2, 2970 Hoersholm, Denmark.
  • Nielsen TT; Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen, Denmark.
  • Stummann TC; H. Lundbeck A/S, Ottiliavej 9, Valby 2500, Denmark.
  • Fog K; H. Lundbeck A/S, Ottiliavej 9, Valby 2500, Denmark.
  • Hyttel P; Department of Veterinary Clinical and Animal Sciences, University of Copenhagen, Groennegårdsvej 7, 1870 Frb C, Denmark.
Stem Cell Res ; 16(3): 553-6, 2016 05.
Article in En | MEDLINE | ID: mdl-27346190
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Machado-Joseph Disease / Induced Pluripotent Stem Cells Limits: Adolescent / Humans / Male Language: En Journal: Stem Cell Res Year: 2016 Document type: Article Affiliation country: Denmark
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Machado-Joseph Disease / Induced Pluripotent Stem Cells Limits: Adolescent / Humans / Male Language: En Journal: Stem Cell Res Year: 2016 Document type: Article Affiliation country: Denmark