Generation of a homozygous CRISPR/Cas9-mediated knockout human iPSC line for the STUB1 locus

Stem Cell Res. 2019 Jan:34:101378. doi: 10.1016/j.scr.2018.101378. Epub 2018 Dec 21.

Abstract

STUB1/CHIP is a central component of cellular protein homeostasis and interacts with key proteins involved in the pathogenesis of many neurodegenerative diseases. Missense and truncating mutations in STUB1 lead to SCAR16. For ideal in vitro disease modelling with isogenic controls, we generated a CHIP knockout cell line from a healthy control with no CHIP functionality, but remaining genomic integrity and verified pluripotency.

MeSH terms

  • Adult
  • CRISPR-Cas Systems / genetics*
  • Cell Culture Techniques / methods*
  • Cell Line
  • Female
  • Gene Knockout Techniques*
  • Genetic Loci*
  • Homozygote
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • STUB1 protein, human
  • Ubiquitin-Protein Ligases