Generation of induced pluripotent stem cell line (ZZUi037-A) from a patient with spinocerebellar ataxia type 3
Summary
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. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Cheng Y, Sun H, Chen X, Li X, Xu Y, Wang Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103617 |
| PubMed | 39603094 |
| DOI | 10.1016/j.scr.2024.103617 |