从一名脊髓小脑共济失调 3 型患者身上提取诱导多能干细胞系 (ZZUi037-A)

IF 0.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Stem cell research Pub Date : 2024-11-22 DOI:10.1016/j.scr.2024.103617
Yunan Cheng , Huifang Sun , Xiaolei Chen , Xinyu Li , Yuming Xu , Yanlin Wang
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引用次数: 0

摘要

脊髓小脑共济失调 3 型(SCA3)是一种常染色体显性变性疾病,由于 ATXN3 基因中胞嘧啶-腺嘌呤-鸟嘌呤(CAG)三核苷酸重复序列异常扩增,导致 PolyQ 异常聚集形成神经元核内含物,从而引起进行性小脑共济失调。目前,尚无有效的治疗方法。在此,我们从一名患者身上获得了真皮成纤维细胞,并通过非整合重编程技术成功获得了诱导多能干细胞(iPSC)。该细胞系保持了正常核型的典型多能性标记和突变序列。这为进一步研究SCA3的发病机制和治疗提供了资源。
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Generation of induced pluripotent stem cell line (ZZUi037-A) from a patient with spinocerebellar ataxia type 3
Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant degenerative disease that causes progressive cerebellar ataxia due to abnormal expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats in the ATXN3 gene, leading to abnormal accumulation of PolyQ to form neuronal nuclear inclusions. Currently, there is no effective treatment for it. Here, we obtained dermal fibroblasts from a patient and induced pluripotent stem cells (iPSCs) were successfully obtained by non-integrated reprogramming techniques. This cell line maintains typical pluripotent markers and mutation sequences of with normal karyotype. This provides resources for further research on the pathogenesis and treatment of SCA3.
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来源期刊
Stem cell research
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.
期刊最新文献
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