title: Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation.
abstract: Induced pluripotent stem cells (iPSCs) were generated from dermal fibroblasts from a 60-year-old cerebrotendinous xanthomatosis (CTX) patient, carrying a homozygous mutation c. [1183C>A]; p. R395S in CYP27A1. Episomal plasmids encoding the pluripotency genes OCT4, SOX2, KLF4, L-MYC and LIN28 were introduced via electroporation. The generated line iPS-CTX-R395S has no sign of plasmid integration or chromosomal aberration and retained the mutation site in CYP27A1. Furthermore, iPSCs express pluripotency markers and are able to differentiate in all germ layers in vitro. The generated line may be a useful tool for disease modelling of CTX.
authors.affiliation: Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany; Graduate School of Cellular and Molecular Neuroscience, University of Tuebingen, Tuebingen, Germany.
authors.forename: Philip
authors.initials: P
authors.lastname: Höflinger
authors.affiliation: German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany. Electronic address: stefan.hauser@dzne.de.
authors.forename: Stefan
authors.initials: S
authors.lastname: Hauser
authors.affiliation: German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany.
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Theurer
authors.affiliation: Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
authors.forename: Stefanie
authors.initials: S
authors.lastname: Weißenberger
authors.affiliation: Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
authors.forename: Carlo
authors.initials: C
authors.lastname: Wilke
authors.affiliation: Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany.
authors.forename: Ludger
authors.initials: L
authors.lastname: Schöls
mesh_terms: D001483:Base Sequence; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism; D005838:Genotype; D006801:Humans; D007150:Immunohistochemistry; D057026:Induced Pluripotent Stem Cells / Q000166:cytology / Q000378:metabolism*; D000090062:Kruppel-Like Factor 4; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D019294:Xanthomatosis, Cerebrotendinous / Q000235:genetics / Q000378:metabolism / Q000473:pathology*
chemical_list: C000715467:KLF4 protein, human; D000090062:Kruppel-Like Factor 4; D014157:Transcription Factors; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase