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

M Korneck; L Wiora; L Schöls; S Hauser

doi:10.1016/j.scr.2022.102741

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.

Authors

M Korneck¹, L Wiora¹, L Schöls², S Hauser³

Affiliations

¹ Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Graduate School of Cellular and Molecular Neuroscience, University of Tübingen, Tübingen, Germany.
² Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
³ Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address: stefan.hauser@dzne.de.

PMID: 35248878
DOI: 10.1016/j.scr.2022.102741

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