Generation of induced pluripotent stem cells from a patient with spinocerebellar ataxia type 3

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• 作者：Bing-Wen Soong^a ; ^b ; ^c ; ¹ ; Shih-Han Syu^d ; ¹ ; Cheng-Hao Wen^d ; Hui-Wen Ko^d ; Mei-Ling Wu^d ; Patrick C.H. Hsieh^e ; ^f ; Shiaw-Min Hwang^d ; Huai-En Lu^d ; ^{hel@firdi.org.tw}
• 刊名：Stem Cell Research
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：18
• 期：Complete
• 页码：29-32
• 全文大小：643 K
• 卷排序：18

文摘

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.