诱导多能干细胞（iPSC）系（INNDSUi008-A）在脊髓小脑性共济失调3型患者中的生成

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-02-17 DOI:10.1016/j.scr.2025.103675

Bo Li , Yingxin Wang , Yitong Yang , Didi Shan , Jianing Li , Hongxu Wang , Xiaohan Sun , Zexin Zhan , Xinbo Ji , Yao Tang , Yichang Jiao , Bo Kong , Bo Gao , Ping Sun , Fuchen Liu , Yu Wang

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引用次数: 0

摘要

ATXN3基因外显子10的异常三核苷酸CAG重复扩增已被确定为脊髓小脑性共济失调3型（SCA3）的原因。我们从一名基因证实的SCA3患者的皮肤成纤维细胞中产生并鉴定了一种人类诱导多能干细胞（iPSC）系。通过在RNA和蛋白质水平上表达几种未分化的多能干细胞标记物，以及它们分化为所有三种胚层的能力，证实了这些多能干细胞的多能性。

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Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi008-A) from a patient with Spinocerebellar Ataxia Type 3

Abnormal trinucleotide CAG repeat expansions in exon 10 of the ataxin-3 (ATXN3) gene has been identified as the cause of Spinocerebellar Ataxia Type 3 (SCA3). We generated and characterized a human induced pluripotent stem cell (iPSC) line from skin fibroblasts of a patient with genetically confirmed SCA3. The pluripotency of these iPSCs was verified by the expression of several undifferentiated hPSCs markers at both RNA and protein levels, as well as their capability to differentiate into all three germ layers.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.