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Stem Cell Res. 2019 Jan;34:101378. doi: 10.1016/j.scr.2018.101378. Epub 2018 Dec 21.

Generation of a homozygous CRISPR/Cas9-mediated knockout human iPSC line for the STUB1 locus.

Author information

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
Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
3
Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
4
German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address: stefan.hauser@dzne.de.

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.

PMID:
30605842
DOI:
10.1016/j.scr.2018.101378
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