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Article

Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene.

Stem cell research - 1 Feb 2023

Santangelo Serena, Bossolasco Patrizia, Magri Stefania, Colombrita Claudia, Invernizzi Sabrina, Gellera Cinzia, Nanetti Lorenzo, Di Bella Daniela, Silani Vincenzo, Taroni Franco, Ratti Antonia

Abstract excerpt

We generated an iPSC line from a patient with spastic paraplegia type 10 (SPG10) carrying the novel missense variant c.50G > A (p.R17Q) in the N-terminal motor domain of the kinesin family member 5A (KIF5A) gene. This patient-derived in vitro cell model will help to investigate the role of different KIF5A mutations in inducing neurodegeneration in spastic paraplegia and in other KIF5A-related disorders, including...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36565680
DOI: 10.1016/j.scr.2022.103008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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