Journal Article

DZNE-2020-06843

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Generation of a homozygous CRISPR/Cas9-mediated knockout human iPSC line for the STUB1 locus.

Schuster, S. (First author)DZNE* ; Saravanakumar, S. ; Schöls, L.DZNE* ; Hauser, S. (Last author)DZNE*

2019
Elsevier Amsterdam [u.a.]

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Please use a persistent id in citations: doi:10.1016/j.scr.2018.101378

Abstract: STUB1/CHIP is a central component of cellular protein homeostasis and interacts with key proteins involved in the pathogenesis of many neurodegenerative diseases. Missense and truncating mutations in STUB1 lead to SCAR16. For ideal in vitro disease modelling with isogenic controls, we generated a CHIP knockout cell line from a healthy control with no CHIP functionality, but remaining genomic integrity and verified pluripotency.

Keyword(s): Adult (MeSH) ; CRISPR-Cas Systems: genetics (MeSH) ; Cell Culture Techniques: methods (MeSH) ; Cell Line (MeSH) ; Female (MeSH) ; Gene Knockout Techniques (MeSH) ; Genetic Loci (MeSH) ; Homozygote (MeSH) ; Humans (MeSH) ; Induced Pluripotent Stem Cells: cytology (MeSH) ; Ubiquitin-Protein Ligases: genetics (MeSH) ; STUB1 protein, human ; Ubiquitin-Protein Ligases

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Contributing Institute(s):

1. Clinical Neurogenetics (AG Schöls)
2. Parkinson Genetics (AG Gasser)

Research Program(s):

1. 345 - Population Studies and Genetics (POF3-345) (POF3-345)

Appears in the scientific report 2019

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Database coverage:
; ; ; ; BIOSIS Previews ; Clarivate Analytics Master Journal List ; DOAJ Seal ; IF < 5 ; JCR ; SCOPUS ; Web of Science Core Collection

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