title: Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H196.
abstract: Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease primarily affecting the cerebellum. Very little is known about the molecular mechanisms underlying the disease and, to date, no cure or treatment is available. Here, we demonstrate the generation of an induced pluripotent stem cell (iPSC) line of a SCA2 patient. The selected clone has been proven to be a bona fide iPSC line, which retains a normal karyotype. Due to its differentiation potential into neurons, this iPSC line will be a valuable tool in studying a disease-specific phenotype of SCA2.
authors.affiliation: Department of Clinical and Veterinary Animal Science, Copenhagen University, Grønnegårdsvej 7, 1870 Frederiksberg, C, Denmark; Neurogenetic Research Laboratory, Danish Dementia Research Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen, Denmark.
authors.forename: Adele G
authors.initials: AG
authors.lastname: Marthaler
authors.affiliation: Bioneer A/S, Kogle Allé 2, 2970 Hørsholm, Denmark.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Schmid
authors.affiliation: Bioneer A/S, Kogle Allé 2, 2970 Hørsholm, Denmark; Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, 73170, Thailand.
authors.forename: Alisa
authors.initials: A
authors.lastname: Tubsuwan
authors.affiliation: Bioneer A/S, Kogle Allé 2, 2970 Hørsholm, Denmark.
authors.forename: Ulla B
authors.initials: UB
authors.lastname: Poulsen
authors.affiliation: Department of Clinical and Veterinary Animal Science, Copenhagen University, Grønnegårdsvej 7, 1870 Frederiksberg, C, Denmark.
authors.forename: Poul
authors.initials: P
authors.lastname: Hyttel
authors.affiliation: Neurogenetic Research Laboratory, Danish Dementia Research Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen, Denmark.
authors.forename: Troels T
authors.initials: TT
authors.lastname: Nielsen
authors.affiliation: Neurogenetic Research Laboratory, Danish Dementia Research Centre, Department of Neurology, 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 Allé 2, 2970 Hørsholm, Denmark.
authors.forename: Bjørn
authors.initials: B
authors.lastname: Holst
mesh_terms: D000483:Alleles; D000067698:Ataxin-2 / Q000235:genetics; D001483:Base Sequence; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D059785:Karyotype; D008297:Male; D008969:Molecular Sequence Data; D010957:Plasmids / Q000378:metabolism; D017422:Sequence Analysis, DNA; D020754:Spinocerebellar Ataxias / Q000378:metabolism / Q000473:pathology*; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D014162:Transfection
chemical_list: C000593752:ATXN2 protein, human; D000067698:Ataxin-2; D014157:Transcription Factors