Generation of the CRISPR/Cas9-mediated KIF1C knock-out human iPSC line HIHRSi003-A-1

生成 CRISPR/Cas9 介导的 KIF1C 敲除人类 iPSC 系 HIHRSi003-A-1

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作者:Maike Nagel, Sandra Müßig, Philip Höflinger, Ludger Schöls, Stefan Hauser, Rebecca Schüle

Abstract

Bi-allelic loss-of-function mutations in the gene encoding the motor protein KIF1C are associated with Hereditary Spastic Paraplegia (HSP) type SPG58, a slowly progressive neurodegenerative motoneuron disease. The biological role of KIF1C is incompletely understood. We used a protein-based CRISPR/Cas9 genome editing approach to generate a homozygous KIF1C knock-out iPSC line (HIHRSi003-A-1) from a healthy control. This iPSC-KIF1C-/- line and the corresponding isogenic control are a useful model to study the physiological function of KIF1C and the pathophysiological consequences of KIF1C dysfunction in human disease.

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