title: Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H266.
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. We have successfully generated bona fide induced pluripotent stem cell (iPSC) lines of SCA2 patients in order to study a disease-specific phenotype. Here, we demonstrate the gene correction of the iPSC line H266 clone 10 where we have exchanged the expanded CAG repeat of the ATXN2 gene with the normal length found in healthy alleles. This gene corrected cell line will provide the ideal control to model SCA2 by iPSC technology.
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; 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: Benjamin
authors.initials: B
authors.lastname: Schmid
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: Alexander F
authors.initials: AF
authors.lastname: Engelbrecht
authors.affiliation: Institute of Medical Genetics and Applied Genomics, Division of Cytogenetics, Calwerstrasse 7, University of Tübingen, 72076 Tübingen, Germany.
authors.forename: Ulrike A
authors.initials: UA
authors.lastname: Mau-Holzmann
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; D064113:CRISPR-Cas Systems / Q000235:genetics; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D005260:Female; D005838:Genotype; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D059785:Karyotype; 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