Journal Article

DZNE-2024-00336

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing

Korneck, M. (First author)DZNE* ; Leonhardt, A.DZNE* ; Schöls, L.DZNE* ; Hauser, S. (Last author)DZNE*

2024
Elsevier Amsterdam [u.a.]

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Please use a persistent id in citations: 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.

Keyword(s): Induced Pluripotent Stem Cells: metabolism (MeSH) ; CRISPR-Cas Systems (MeSH) ; Gene Editing (MeSH) ; Humans (MeSH) ; Homozygote (MeSH) ; Heterozygote (MeSH) ; Cell Line (MeSH) ; Gene Knockout Techniques (MeSH)

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Contributing Institute(s):

1. Advanced cellular models of neurodegeneration (AG Hauser)
2. Clinical Neurogenetics (AG Schöls)

Research Program(s):

1. 352 - Disease Mechanisms (POF4-352) (POF4-352)
2. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

Appears in the scientific report 2024

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