Stem Cell Research (Dec 2024)

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

  • Yunan Cheng,
  • Huifang Sun,
  • Xiaolei Chen,
  • Xinyu Li,
  • Yuming Xu,
  • Yanlin Wang

DOI
https://doi.org/10.1016/j.scr.2024.103617
Journal volume & issue
Vol. 81
p. 103617

Abstract

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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.