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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Journal
Stem Cell Research
Published
2024-11-22
DOI
https://doi.org/10.1016/j.scr.2024.103617
Primary Topic
Genetic Neurodegenerative Diseases
Type
article
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article

Generation of induced pluripotent stem cell line (ZZUi037-A) from a patient with spinocerebellar ataxia type 3

Xinyu Li, Yanlin Wang, Yuming Xu, Huifang Sun et al.
Stem Cell Research
Genetic Neurodegenerative Diseases
article

Generation of induced pluripotent stem cell line (ZZUi037-A) from a patient with spinocerebellar ataxia type 3

Xinyu Li, Yanlin Wang, Yuming Xu, Huifang Sun, Ying Cheng, Xiaolei Chen
article en

Abstract

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.

Stem Cell ResearchVol. 81
First Affiliated Hospital of Zhengzhou University (CN)
Good health and well-being
Openalex Percentile: Top 78%
Genetic Neurodegenerative Diseases
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Generation of induced pluripotent stem cell line (ZZUi037-A) from a patient with spinocerebellar ataxia type 3 — Xinyu Li, Yanlin Wang, et al. · Stem Cell Research (2024) | TGRS Research Map | TGRS