Krumm, Laura, Pozner, Tatyana, Kaindl, Johanna, Regensburger, Martin, Günther, Claudia, Turan, Soeren, Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Rauch, Anita and Winner, Beate (2021) Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in. Stem Cell Research, 56:102520. ISSN 1873-5061 (doi:10.1016/j.scr.2021.102520)

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Abstract

Pathogenic bi-allelic variants in the SPG11 gene result in rare motor neuron disorders such as Hereditary Spastic Paraplegia type 11, Charcot-Marie Tooth, and Juvenile Amyotrophic Lateral Sclerosis-5. The main challenge in SPG11-linked disease research is the lack of antibodies against SPG11 encoded spatacsin. Here, we describe the CRISPR/Cas9 mediated generation and validation of an endogenously tagged SPG11- human iPSC line that contains an HA tag at the C-terminus of SPG11. The line exhibits multi-lineage differentiation potential and holds promise for studying the role of spatacsin and for the elucidation of SPG11-associated pathogenesis.

Item Type:	Article
Uncontrolled Keywords:	SPG11; CRISPR-Cas9; iPSC
Subjects:	Q Science > QH Natural history > QH426 Genetics
Faculty / School / Research Centre / Research Group:	Faculty of Engineering & Science Faculty of Engineering & Science > School of Science (SCI)
Last Modified:	20 Jun 2022 11:21
URI:	http://gala.gre.ac.uk/id/eprint/36712

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