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

Stem cell research - 1 Oct 2021

Krumm Laura, Pozner Tatyana, Kaindl Johanna, Regensburger Martin, Günther Claudia, Turan Soeren, Asadollahi Reza, Rauch Anita, Winner Beate

Abstract excerpt

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-...

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Identifiers

PMID: 34479069
DOI: 10.1016/j.scr.2021.102520

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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