Generation of the CRISPR/Cas9-mediated KIF1C knock-out human iPSC line HIHRSi003-A-1
| Autor: | Nagel, Maike, Müßig, Sandra, Höflinger, Philip, Schöls, Ludger, Hauser, Stefan, Schüle, Rebecca |
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| Jazyk: | angličtina |
| Předmět: | |
| Zdroj: | Stem cell research 49, 102059-(2020). doi:10.1016/j.scr.2020.102059 Stem cell research, 49, Art.-Nr.: 102059 Stem Cell Research, Vol 49, Iss, Pp 102059-(2020) |
| ISSN: | 1873-5061 |
| DOI: | 10.1016/j.scr.2020.102059 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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