Journal Article

DZNE-2022-00315

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Generation of two SPAST knockout human induced pluripotent stem cell lines to create a model for Hereditary Spastic Paraplegia type 4.

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

2022
Elsevier Amsterdam [u.a.]

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Please use a persistent id in citations: 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.

Keyword(s): Humans (MeSH) ; Induced Pluripotent Stem Cells (MeSH) ; Mutation (MeSH) ; Paraplegia: genetics (MeSH) ; Spastic Paraplegia, Hereditary: genetics (MeSH) ; Spastin: genetics (MeSH)

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Contributing Institute(s):

1. Clinical Neurogenetics (AG Schöls)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

Appears in the scientific report 2022

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