Generation of two SPAST knockout human induced pluripotent stem cell lines to create a model for Hereditary Spastic Paraplegia type 4

Stem Cell Res. 2022 Apr:60:102741. doi: 10.1016/j.scr.2022.102741. Epub 2022 Feb 28.

Abstract

Spastin is a an ATPase that severs microtubules therby regulating amount and mobility of these structures. Mutations in the SPAST gene (SPG4) are the most common form of Hereditary Spastic Paraplegia (HSP). Here, we report the generation of a homozygous and a heterozygous SPAST knockout induced pluripotent stem cell (iPSC) line from a healthy control iPSC line using CRISPR/Cas9 technology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Induced Pluripotent Stem Cells*
  • Mutation
  • Paraplegia / genetics
  • Spastic Paraplegia, Hereditary* / genetics
  • Spastin / genetics

Substances

  • Spastin
  • SPAST protein, human

Supplementary concepts

  • Spastic Paraplegia Type 4