Literature DB >> 30605842

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

Stefanie Schuster1, Srinethe Saravanakumar2, Ludger Schöls3, Stefan Hauser4.   

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.
Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

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Year:  2018        PMID： 30605842     DOI： 10.1016/j.scr.2018.101378

Source DB:  PubMed          Journal:  Stem Cell Res        ISSN： 1873-5061            Impact factor:   2.020


  3 in total

Review 1.  CRISPR/Cas9 facilitates genomic editing for large-scale functional studies in pluripotent stem cell cultures.

Authors:  Xiao-Fei Li; Yong-Wei Zhou; Peng-Fei Cai; Wei-Cong Fu; Jin-Hua Wang; Jin-Yang Chen; Qi-Ning Yang
Journal:  Hum Genet       Date:  2019-10-12       Impact factor: 4.132

2.  CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons.

Authors:  S Schuster; E Heuten; A Velic; J Admard; M Synofzik; S Ossowski; B Macek; S Hauser; L Schöls
Journal:  Dis Model Mech       Date:  2020-10-12       Impact factor: 5.758

3.  A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype.

Authors:  David Mengel; Andreas Traschütz; Selina Reich; Alejandra Leyva-Gutiérrez; Friedemann Bender; Stefan Hauser; Tobias B Haack; Matthis Synofzik
Journal:  J Neurol       Date:  2021-04-03       Impact factor: 4.849
  3 in total

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