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

生成 CRISPR/Cas9 介导的 STUB1 基因位点纯合敲除人类 iPSC 系

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作者:Stefanie Schuster, Srinethe Saravanakumar, Ludger Schöls, Stefan Hauser

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.

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