Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene
Summary
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 Charcot-Marie-Tooth type 2 (CMT2) and amyotrophic lateral sclerosis (ALS). Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Santangelo S, Bossolasco P, Magri S, Colombrita C, Invernizzi S, Gellera C, Nanetti L, Di Bella D, Silani V, Taroni F, Ratti A |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Feb;66:103008 |
| PubMed | 36565680 |
| DOI | 10.1016/j.scr.2022.103008 |