Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene

Autor: Eva Rodríguez-Traver, César Rodríguez, Eva Díaz-Guerra, Fabián Arenas, Marcos Araúzo-Bravo, María Orera, Jaime Kulisevsky, Rosario Moratalla, Carlos Vicario
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: Stem Cell Research, Vol 40, Iss , Pp - (2019)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2019.101578
Popis: The L444P mutation in the GBA1 gene which encodes β-glucocerebrosidase-1, is a major risk factor for developing Parkinson's disease (PD) and dementia with Lewy bodies (DLB). We report the generation and characterization of an induced pluripotent stem cell (iPSC) line derived from a female PD patient carrying the L444P/wt mutation. The iPSC line presented a normal morphology, expressed endogenous pluripotency markers, could be differentiated into endodermal, mesodermal and ectodermal cells, was free from Sendai vectors and reprogramming factors, had a normal karyotype and maintained the original GBA1 genotype. Thus, this iPSC line can serve to establish cellular models of PD.
Databáze: Directory of Open Access Journals