title: Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient.
abstract: Human skin fibroblasts were isolated from a 40-year-old hereditary spastic paraplegia patient carrying an intronic splice site mutation (c.1687+2T>A) in SPAST, leading to hereditary spastic paraplegia type 4 (SPG4). Fibroblasts were reprogrammed using episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC and hLIN28. The generated transgene-free line iPS-SPG4-splice retained the specific mutation with no additional genomic aberrations, expressed pluripotency markers and was able to differentiate into cells of all germ layers in vitro. The generated iPS-SPG4-splice line might be a useful platform to study the pathomechanism of SPG4.
authors: German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany.
authors: Stefan
authors: S
authors: Hauser
authors: German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany.
authors: Melanie
authors: M
authors: Erzler
authors: German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany.
authors: Yvonne
authors: Y
authors: Theurer
authors: 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: Stefanie
authors: S
authors: Schuster
authors: German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany; Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
authors: Rebecca
authors: R
authors: Schüle
authors: German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany; Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany. Electronic address: ludger.schoels@uni-tuebingen.de.
authors: Ludger
authors: L
authors: Schöls
mesh_terms: D000328:Adult; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D058732:Embryoid Bodies / Q000166:cytology / Q000378:metabolism; D005347:Fibroblasts / Q000166:cytology; D006579:Heterozygote; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D008856:Microscopy, Fluorescence; D020641:Polymorphism, Single Nucleotide; D022821:RNA Splice Sites / Q000235:genetics; D017422:Sequence Analysis, DNA; D012867:Skin / Q000166:cytology; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics / Q000473:pathology*; D000074181:Spastin / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D022821:RNA Splice Sites; D014157:Transcription Factors; D000074181:Spastin; C400283:SPAST protein, human