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

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 kn...

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Main Authors: M. Korneck, A. Leonhardt, L. Schöls, S. Hauser
Format: Article
Language:English
Published: Elsevier 2024-06-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S187350612400076X
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author M. Korneck
A. Leonhardt
L. Schöls
S. Hauser
author_facet M. Korneck
A. Leonhardt
L. Schöls
S. Hauser
author_sort M. Korneck
collection DOAJ
description 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.
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spelling doaj.art-bee96af1e4274692b156fe68ecded0632024-03-14T06:14:21ZengElsevierStem Cell Research1873-50612024-06-0177103378Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editingM. Korneck0A. Leonhardt1L. Schöls2S. Hauser3Hertie 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, GermanyGerman Center for Neurodegenerative Diseases (DZNE), Tübingen, GermanyHertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, GermanyHertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S187350612400076X
spellingShingle M. Korneck
A. Leonhardt
L. Schöls
S. Hauser
Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing
Stem Cell Research
title Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing
title_full Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing
title_fullStr Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing
title_full_unstemmed Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing
title_short Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing
title_sort generation of homozygous and heterozygous reep1 knockout induced pluripotent stem cell lines by crispr cas9 gene editing
url http://www.sciencedirect.com/science/article/pii/S187350612400076X
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AT lschols generationofhomozygousandheterozygousreep1knockoutinducedpluripotentstemcelllinesbycrisprcas9geneediting
AT shauser generationofhomozygousandheterozygousreep1knockoutinducedpluripotentstemcelllinesbycrisprcas9geneediting