Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene

Stem Cell Res. 2018 Aug:31:249-252. doi: 10.1016/j.scr.2018.07.012. Epub 2018 Jul 27.

Abstract

The human iPSC cell line, ARS-FiPS4F1 (ESi063-A), derived from dermal fibroblast from the patient autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutations on the gene SACSIN, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 reprogramming factors. The pluripotency was assessed by immunocytochemistry and RT-PCR. Differentiation capacity was verified in vitro. This iPSC line can be further differentiated toward affected cells to better understand molecular mechanisms of disease and pathophysiology.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Cell Line
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Kruppel-Like Factor 4
  • Male
  • Muscle Spasticity / genetics*
  • Mutation
  • Spinocerebellar Ataxias / congenital*
  • Spinocerebellar Ataxias / genetics

Supplementary concepts

  • Spastic ataxia Charlevoix-Saguenay type