Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing

M Korneck; A Leonhardt; L Schöls; S Hauser

doi:10.1016/j.scr.2024.103378

Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing

Stem Cell Res. 2024 Mar 5:77:103378. doi: 10.1016/j.scr.2024.103378. Online ahead of print.

Authors

M Korneck¹, A Leonhardt², L Schöls³, S Hauser⁴

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 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.
⁴ 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: 38479332
DOI: 10.1016/j.scr.2024.103378

Abstract

REEP1 is a transmembrane protein in the endoplasmic reticulum (ER) membrane that is involved in shaping and remodeling of the ER. Mutations in REEP1 cause SPG31, an autosomal dominant form of hereditary spastic paraplegia (HSP). Here we show the generation of a homozygous and a heterozygous REEP1 knockout induced pluripotent stem cell line suitable for in vitro disease modelling using the CRISPR/Cas9 editing system.