Generation of induced pluripotent stem cell line RCPCMi008-A derived from patient with spinocerebellar ataxia 17

Stem Cell Res. 2021 Jul:54:102431. doi: 10.1016/j.scr.2021.102431. Epub 2021 Jun 16.

Abstract

IPSC line RCPCMi004-8 was generated from skin fibroblasts collected from a male patient with spinocerebellar ataxia 17. The patient has expanded trinucleotide CAG repeats in the TBP (TATA-binding protein) gene on chromosome 6q27. The reprogramming of fibroblasts was performed with Sendai viruses containing Oct-4, Sox-2, Klf-4, and c-Myc. Pluripotency was confirmed by immunofluorescence, RT-PCR, and the formation of embryoid bodies. The RCPCMi008-A cell line carries the same trinucleotide CAG repeats in the TBP gene. The RCPCMi008-A cell line can be used to model Spinocerebellar ataxia in vitro.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation
  • Cell Line
  • Humans
  • Induced Pluripotent Stem Cells*
  • Male
  • Spinocerebellar Ataxias* / genetics

Supplementary concepts

  • Spinocerebellar Ataxia 17