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

التفاصيل البيبلوغرافية
العنوان:	Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene
المؤلفون:	Serena Santangelo, Patrizia Bossolasco, Stefania Magri, Claudia Colombrita, Sabrina Invernizzi, Cinzia Gellera, Lorenzo Nanetti, Daniela Di Bella, Vincenzo Silani, Franco Taroni, Antonia Ratti
المصدر:	Stem Cell Research, Vol 66, Iss , Pp 103008- (2023)
بيانات النشر:	Elsevier, 2023.
سنة النشر:	2023
المجموعة:	LCC:Biology (General)
مصطلحات موضوعية:	Biology (General), QH301-705.5
الوصف:	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).
نوع الوثيقة:	article
وصف الملف:	electronic resource
اللغة:	English
تدمد:	1873-5061
Relation:	http://www.sciencedirect.com/science/article/pii/S1873506122003579; https://doaj.org/toc/1873-5061
DOI:	10.1016/j.scr.2022.103008
URL الوصول:	https://doaj.org/article/a75a2c3ab14a42fdab4634051f262944
رقم الأكسشن:	edsdoj.75a2c3ab14a42fdab4634051f262944
قاعدة البيانات:	Directory of Open Access Journals

الوصف
تدمد:	18735061
DOI:	10.1016/j.scr.2022.103008