title: Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome).
abstract: Human skin fibroblasts were isolated from a 48-year-old patient carrying compound heterozygous mutations (c.610+364G>A and c.1311A>G) in OPA1, responsible for early onset optic atrophy complicated by ataxia and pyramidal signs (Behr syndrome; OMIM #210000). Fibroblasts were reprogrammed using episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC and hLIN28. The generated transgene-free line iPS-OPA1-BEHR showed no additional genomic aberrations, maintained the disease-relevant mutations, expressed important pluripotency markers and was capable to differentiate into cells of all three germ layers in vitro. The generated iPS-OPA1-BEHR line might be a useful platform to study the pathomechanism of early onset complicated optic atrophy syndromes.
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: 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: Stefanie
authors.initials: S
authors.lastname: Schuster
authors.affiliation: German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany.
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Theurer
authors.affiliation: German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany; Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
authors.forename: Matthis
authors.initials: M
authors.lastname: Synofzik
authors.affiliation: German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany; Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
authors.forename: Ludger
authors.initials: L
authors.lastname: Schöls
mesh_terms: D001259:Ataxia / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D001483:Base Sequence; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D004252:DNA Mutational Analysis; D005260:Female; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism; D020558:GTP Phosphohydrolases / Q000235:genetics*; D005838:Genotype; D034381:Hearing Loss / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry; D057026:Induced Pluripotent Stem Cells / Q000166:cytology / Q000378:metabolism*; D008607:Intellectual Disability / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008875:Middle Aged; D009896:Optic Atrophy / Q000151:congenital* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D013035:Spasm / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D014157:Transcription Factors; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human