title: Generation of induced pluripotent stem cells from a patient with spinocerebellar ataxia type 3.
abstract: Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a trinucleotide repeat (CAG) expansion in the coding region of ATXN3 gene resulting in production of ataxin-3 with an elongated polyglutamine tract. Here, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a male patient with SCA3 by using the Sendai-virus delivery system. The resulting iPSCs had a normal karyotype, retained the disease-causing ATXN3 mutation, expressed pluripotent markers and could differentiate into the three germ layers. Potentially, the iPSCs could be a useful tool for the investigation of disease mechanisms of SCA3.
authors.affiliation: Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan; Brain Research Center, National Yang-Ming University, Taipei, Taiwan; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan.
authors.forename: Bing-Wen
authors.initials: BW
authors.lastname: Soong
authors.affiliation: Bioresource Collection and Research Center, Food Industry Research and Development Institute, Hsinchu, Taiwan.
authors.forename: Shih-Han
authors.initials: SH
authors.lastname: Syu
authors.affiliation: Bioresource Collection and Research Center, Food Industry Research and Development Institute, Hsinchu, Taiwan.
authors.forename: Cheng-Hao
authors.initials: CH
authors.lastname: Wen
authors.affiliation: Bioresource Collection and Research Center, Food Industry Research and Development Institute, Hsinchu, Taiwan.
authors.forename: Hui-Wen
authors.initials: HW
authors.lastname: Ko
authors.affiliation: Bioresource Collection and Research Center, Food Industry Research and Development Institute, Hsinchu, Taiwan.
authors.forename: Mei-Ling
authors.initials: ML
authors.lastname: Wu
authors.affiliation: Program in Molecular Medicine, National Yang-Ming University and Academia Sinica, Taipei, Taiwan; Institute of Biomedical Science, Academia Sinica, Taipei, Taiwan.
authors.forename: Patrick C H
authors.initials: PC
authors.lastname: Hsieh
authors.affiliation: Bioresource Collection and Research Center, Food Industry Research and Development Institute, Hsinchu, Taiwan.
authors.forename: Shiaw-Min
authors.initials: SM
authors.lastname: Hwang
authors.affiliation: Bioresource Collection and Research Center, Food Industry Research and Development Institute, Hsinchu, Taiwan. Electronic address: hel@firdi.org.tw.
authors.forename: Huai-En
authors.initials: HE
authors.lastname: Lu
mesh_terms: D000818:Animals; D000067699:Ataxin-3 / Q000235:genetics*; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D016172:DNA Fingerprinting; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism / Q000637:transplantation; D059785:Karyotype; D007963:Leukocytes, Mononuclear / Q000166:cytology / Q000378:metabolism; D017827:Machado-Joseph Disease / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008297:Male; D051379:Mice; D016688:Mice, Inbred NOD; D016513:Mice, SCID; D008856:Microscopy, Fluorescence; D013737:Testis / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D014183:Transplantation, Heterologous; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: D014157:Transcription Factors; D000067699:Ataxin-3