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

[摘要] 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).

[学科分类] 生理学