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

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

Publication Language: English

Publication Status: Published

Publication Type: Journal article

Publication year: 2021

Journal

Stem Cell Research Elsevier

Book Volume: 56

Pages Range: 102520

URI: https://www.sciencedirect.com/science/article/pii/S1873506121003676?via=ihub

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. Resource Table.

Authors with CRIS profile

Beate Winner Professur für Stammzell-Modelle seltener neuraler Erkrankungen 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 Department of Medicine 1 – Gastroenterology, Pneumology and Endocrinology Sören Turan Lehrstuhl für Biochemie und Molekulare Medizin

Related research project(s)

Bavarian Research Association Interaction of Human Brain Cells (ForInter) March 1, 2019 - Dec. 31, 2023 N2: Sensorbasiertes Monitoring der Gangstörung bei HSP-Patienten mit Umsetzung im AlltagN7: Identifikation der Veränderungen im GSK3-Signalweg bei autosomal-rezessiven Typen der kompliziertenHSP anhand von neuralen Modellen aus induziert-pluripotenten Stammzellen (TreatHSP) N2: Sensorbasiertes Monitoring der Gangstörung bei HSP-Patienten mit Umsetzung im AlltagN7: Identifikation der Veränderungen im GSK3-Signalweg bei autosomal-rezessiven Typen der kompliziertenHSP anhand von neuralen Modellen aus induziert-pluripotenten Stammzellen May 1, 2019 - Jan. 31, 2023

Involved external institutions

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

How to cite

APA:

Winner, B., Krumm, L., Pozner, T., Kaindl, J., Regensburger, M., Günther, C.,... Rauch, A. (2021). Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in. Stem Cell Research, 56, 102520. https://doi.org/10.1016/j.scr.2021.102520

MLA:

Winner, Beate, et al. "Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in." Stem Cell Research 56 (2021): 102520.

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