Generation of two induced pluripotent stem cell lines, GZHMCi009-A and GZHMCi010-A, derived from peripheral blood mononuclear cells of two SCA3 patients with 14/74 CAG repeats of the ATXN3 mutation

被引：0

作者：

Yang Yinghong ^{[1
]}

Luo Qian ^{[1
]}

Song Bing ^{[1
]}

Xie Yingjun ^{[1
]}

He Wenzhi ^{[1
]}

Chen Bangzhu ^{[1
]}

Sun Xiaofang ^{[1
,2
]}

机构：

[1] Guangzhou Med Univ, Affiliated Hosp 3, Dept Obstet & Gynecol, Key Lab Major Obstetr Dis Guangdong Prov, Guangzhou, Guangdong, Peoples R China

[2] Guangzhou Regenerat Med & Hlth Guangdong Lab, Guangzhou 510005, Peoples R China

来源：

STEM CELL RESEARCH | 2022年 / 61卷

基金：

中国国家自然科学基金;

关键词：

D O I：

10.1016/j.scr.2022.102782

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

Spinal cerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the result of abnormal repeat amplification of CAG of the ATXN3 gene. It is one of the main types of autosomal dominant ataxia, with motor symptoms of cerebellar ataxia, mainly accompanied by non-motor symptoms, such as ocular symptoms, psychiatric symptoms, and nutritional disorders. Currently, no effective treatment is available for patients with SCA3. The construction of induced pluripotent stem cells (iPSCs) from two SCA3 patients (14/74 CAG repeats) will be an excellent tool for studying SCA3 disease mechanisms and for drug screening.

引用

页数：5

共 5 条

[1] Spinocerebellar ataxias: prospects and challenges for therapy development
Ashizawa, Tetsuo
Oz, Gulin
Paulson, Henry L.
[J]. NATURE REVIEWS NEUROLOGY, 2018, 14 (10) : 590 - 605
[2] Genetic modifiers of age-at-onset in polyglutamine diseases
Chen, Zhao
Sequeiros, Jorge
Tang, Beisha
Jiang, Hong
[J]. AGEING RESEARCH REVIEWS, 2018, 48 : 99 - 108
[3] Toward understanding Machado-Joseph disease
Costa, Maria do Carmo
Paulson, Henry L.
[J]. PROGRESS IN NEUROBIOLOGY, 2012, 97 (02) : 239 - 257
[4] Spinocerebellar ataxia
Klockgether, Thomas
Mariotti, Caterina
Paulson, Henry L.
[J]. NATURE REVIEWS DISEASE PRIMERS, 2019, 5 (1)
[5] Induction of pluripotent stem cells from adult human fibroblasts by defined factors
Takahashi, Kazutoshi
Tanabe, Koji
Ohnuki, Mari
Narita, Megumi
Ichisaka, Tomoko
Tomoda, Kiichiro
Yamanaka, Shinya
[J]. CELL, 2007, 131 (05) : 861 - 872

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