Generation of a human induced pluripotent stem cell line JHUi004-A with heterozygous mutation for spinocerebellar ataxia type 12 using genome editing

Stem Cell Res. 2024 Jun:77:103441. doi: 10.1016/j.scr.2024.103441. Epub 2024 May 10.


Spinocerebellar ataxia type 12 (SCA12) is caused by a CAG expansion mutation in PPP2R2B, a gene encoding brain-specific regulatory units of protein phosphatase 2A (PP2A); while normal alleles carry 4 to 31 triplets, the disease alleles carry 43 to 78 triplets. Here, by CRISPR/Cas9n genome editing, we have generated a human heterozygous SCA12 iPSC line with 73 triplets for the mutant allele. The heterozygous SCA12 iPSCs have normal karyotype, express pluripotency markers and are able to differentiate into the three germ layers.

MeSH terms

  • CRISPR-Cas Systems / genetics
  • Cell Line
  • Gene Editing* / methods
  • Heterozygote*
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Mutation*
  • Nerve Tissue Proteins
  • Protein Phosphatase 2 / genetics
  • Protein Phosphatase 2 / metabolism
  • Spinocerebellar Ataxias* / genetics
  • Spinocerebellar Ataxias* / pathology


  • Protein Phosphatase 2
  • PPP2R2B protein, human
  • Nerve Tissue Proteins

Supplementary concepts

  • Spinocerebellar Ataxia 12