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Title: Derivation of an induced pluripotent stem cell line (MUSIi004-A) from dermal fibroblasts of a 48-year-old spinocerebellar ataxia type 3 patient
Authors: Alisa Ritthaphai
Methichit Wattanapanitch
Manop Pithukpakorn
Worapa Heepchantree
Rungtip Soi-ampornkul
Panchalee Mahaisavariya
Daranporn Triwongwaranat
Kovit Pattanapanyasat
Chinnavuth Vatanashevanopakorn
Faculty of Medicine, Siriraj Hospital, Mahidol University
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 1-Jul-2018
Citation: Stem Cell Research. Vol.30, (2018), 113-116
Abstract: © 2018 The Authors Dermal fibroblasts were obtained from a 48-year-old female patient with spinocerebellar ataxia type 3 (SCA3). Fibroblasts were reprogrammed by nucleofection with episomal plasmids, carrying L-MYC, LIN28, OCT4, SOX2, KLF4, EBNA-1 and shRNA against p53. The SCA3 patient-specific iPSC line, MUSIi004-A, was characterized by immunofluorescence staining to verify the expression of pluripotent markers. The iPSC line exhibited an ability to differentiate into three germ layers by embryoid body (EB) formation. Karyotypic analysis of the MUSIi004-A line was normal. The mutant allele was still present in the iPSC line. This iPSC line represents a useful tool for studying neurodegeneration in SCA3.
ISSN: 18767753
Appears in Collections:Scopus 2018

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