Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene

Stem Cell Res. 2020 Oct:48:101925. doi: 10.1016/j.scr.2020.101925. Epub 2020 Jul 25.


Ataxia with Oculomotor Apraxia Type 1 (AOA1) is an autosomal-recessive cerebellar ataxia characterized by early-onset cerebellar atrophy and axonal sensorimotor polyneuropathy. AOA1 is related to mutations in the aprataxin (APTX) gene encoding for the aprataxin protein. The aprataxin protein has been reported to be involved in DNA single-strand break repair (SSBR) machinery and it localizes to the mitochondria to preserve the mitochondrial function. Here, we demonstrate the generation of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from AOA1 patient's skin dermal fibroblasts. The selected line showed normal karyotype, expression of pluripotency markers and the ability to differentiatie in vitro into the three germ layers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cerebellar Ataxia* / genetics
  • DNA-Binding Proteins / genetics
  • Humans
  • Induced Pluripotent Stem Cells*
  • Mutation
  • Nuclear Proteins / genetics
  • Spinocerebellar Ataxias / congenital


  • APTX protein, human
  • DNA-Binding Proteins
  • Nuclear Proteins

Supplementary concepts

  • Spinocerebellar ataxia, autosomal recessive 1