Genetically Single Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in

Krumm L, Pozner T, Kaindl J, Regensburger M, Günther C, Turan S, Asadollahi R, Rauch A, Winner B (2021)

Publication Status: Published

Publication Type: Journal article

Publication year: 2021

Journal

Stem Cell Research Elsevier

Publisher: ELSEVIER

Book Volume: 56

Article Number: ARTN 102520

DOI: 10.1016/j.scr.2021.102520

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.

Authors with CRIS profile

Laura Krumm Professur für Molekulare Neurologie Tatyana Pozner Professur für Stammzell-Modelle seltener neuraler Erkrankungen Johanna Kaindl Professur für Molekulare Neurologie Martin Regensburger Professur für Stammzell-Modelle seltener neuraler Erkrankungen Claudia Günther Professur für Gastrointestinale Pathophysiologie Sören Turan Lehrstuhl für Biochemie und Molekulare Medizin Beate Winner Professur für Stammzell-Modelle seltener neuraler Erkrankungen

Involved external institutions

Universitätsspital Zürich (USZ) CH Switzerland (CH) University of Zurich / Universität Zürich (UZH) CH Switzerland (CH)

How to cite

APA:

Krumm, L., Pozner, T., Kaindl, J., Regensburger, M., Günther, C., Turan, S.,... Winner, B. (2021). Genetically Single Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in. Stem Cell Research, 56. https://dx.doi.org/10.1016/j.scr.2021.102520

MLA:

Krumm, Laura, et al. "Genetically Single Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in." Stem Cell Research 56 (2021).

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