Generation of induced pluripotent stem cell line (ZZUi004-A) from urine sample of a patient with spinocerebellar ataxia type 3

Stem Cell Res. 2018 Apr:28:71-74. doi: 10.1016/j.scr.2018.01.027. Epub 2018 Jan 31.

Abstract

Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a CAG repeat expansion in the region of the ATXN3 gene. The main feature of SCA3 is progressive ataxia, which affects balance, gait, and speech. Urine cells (UCs) of a SCA3 patient were successfully translated to induced pluripotent stem cells (iPSCs) by using the Sendai virus delivery system. ZZUi004-A cell line may provide a robust platform for further study of SCA3 pathogenesis as well as drug testing and gene therapy research.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cell Culture Techniques / methods*
  • Cell Differentiation
  • Cell Line
  • Female
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Machado-Joseph Disease / pathology*
  • Machado-Joseph Disease / urine*
  • Microsatellite Repeats / genetics
  • Mycoplasma / isolation & purification