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


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. Copyright © 2020. Published by Elsevier B.V.

Authors Nagel M, Müßig S, Höflinger P, Schöls L, Hauser S, Schüle R
Journal Stem cell research
Publication Date 2020 Dec;49:102059
PubMed 33161238
DOI 10.1016/j.scr.2020.102059

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