title: hiPSC Disease Modeling of Rare Hereditary Cerebellar Ataxias: Opportunities and Future Challenges.
abstract: Cerebellar ataxias are clinically and genetically heterogeneous diseases affecting primary cerebellar cells. The lack of availability of affected tissue from cerebellar ataxias patients is the main obstacle in investigating the pathogenicity of these diseases. The landmark discovery of human-induced pluripotent stem cells (hiPSC) has permitted the derivation of patient-specific cells with an unlimited self-renewing capacity. Additionally, their potential to differentiate into virtually any cell type of the human organism allows for large amounts of affected cells to be generated in culture, converting this hiPSC technology into a revolutionary tool in the study of the mechanisms of disease, drug discovery, and gene correction. In this review, we will summarize the current studies in which hiPSC were utilized to study cerebellar ataxias. Describing the currently available 2D and 3D hiPSC-based cellular models, and due to the fact that extracerebellar cells were used to model these diseases, we will discuss whether or not they represent a faithful cellular model and whether they have contributed to a better understanding of disease mechanisms.
authors.affiliation: 1 Stem Cells Therapies in Neurodegenerative Diseases Lab, Research Center "Principe Felipe," Valencia, Spain.|2 National Stem Cell Bank-Valencia Node, Biomolecular and Bioinformatics Resources Platform PRB2, ISCIII, Research Center "Principe Felipe," Valencia, Spain.
authors.forename: Dunja
authors.initials: D
authors.lastname: Lukovic
authors.affiliation: 3 Neuronal and Tissue Regeneration Lab, Research Center "Principe Felipe," Valencia, Spain.
authors.forename: Victoria
authors.initials: V
authors.lastname: Moreno-Manzano
authors.affiliation: 1 Stem Cells Therapies in Neurodegenerative Diseases Lab, Research Center "Principe Felipe," Valencia, Spain.
authors.forename: Francisco Javier
authors.initials: FJ
authors.lastname: Rodriguez-Jimenez
authors.affiliation: 1 Stem Cells Therapies in Neurodegenerative Diseases Lab, Research Center "Principe Felipe," Valencia, Spain.
authors.forename: Angel
authors.initials: A
authors.lastname: Vilches
authors.affiliation: 4 Institute of Experimental Medicine, Department of Neuroscience, Academy of Science of the Czech Republic, Prague, Czech Republic.
authors.forename: Eva
authors.initials: E
authors.lastname: Sykova
authors.affiliation: 4 Institute of Experimental Medicine, Department of Neuroscience, Academy of Science of the Czech Republic, Prague, Czech Republic.
authors.forename: Pavla
authors.initials: P
authors.lastname: Jendelova
authors.affiliation: 5 Spebo Medical, Leskovac, Serbia.|6 Human Genetics Department, Faculty of Medical Sciences, University of Kragujevac, Kragujevac, Serbia.
authors.forename: Miodrag
authors.initials: M
authors.lastname: Stojkovic
authors.affiliation: 1 Stem Cells Therapies in Neurodegenerative Diseases Lab, Research Center "Principe Felipe," Valencia, Spain.|2 National Stem Cell Bank-Valencia Node, Biomolecular and Bioinformatics Resources Platform PRB2, ISCIII, Research Center "Principe Felipe," Valencia, Spain.|4 Institute of Experimental Medicine, Department of Neuroscience, Academy of Science of the Czech Republic, Prague, Czech Republic.
authors.forename: Slaven
authors.initials: S
authors.lastname: Erceg
mesh_terms: D000818:Animals; D002454:Cell Differentiation / Q000502:physiology*; D002524:Cerebellar Ataxia / Q000601:surgery*; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000502:physiology* / Q000637:transplantation*; D008954:Models, Biological; D009419:Nerve Tissue Proteins / Q000378:metabolism; D009474:Neurons / Q000502:physiology
chemical_list: D009419:Nerve Tissue Proteins
keywords: 3D organoids; ataxia; disease modelling; induced pluripotent stem cells