Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene
Por:
Rodriguez-Traver, E, Rodriguez, C, Diaz-Guerra, E, Arenas, F, Arauzo-Bravo, M, Orera, M, Kulisevsky, J, Moratalla, R, Vicario, C
Publicada:
1 oct 2019
Resumen:
The L444P mutation in the GBA1 gene which encodes beta-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.
Filiaciones:
Rodriguez-Traver, E:
CSIC, Inst Cajal, Madrid, Spain
Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
Rodriguez, C:
Hosp Gen Univ Gregorio Maranon, Serv Bioquim Clin, Madrid, Spain
Diaz-Guerra, E:
CSIC, Inst Cajal, Madrid, Spain
Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
Arenas, F:
Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
Hosp Santa Creu & Sant Pau, Neurol Dept, Movement Disorders Unit, Barcelona, Spain
Arauzo-Bravo, M:
Biodonostia Hlth Res Inst, San Sebastian, Spain
Orera, M:
Hosp Gen Univ Gregorio Maranon, Serv Bioquim Clin, Madrid, Spain
Kulisevsky, J:
Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
Hosp Santa Creu & Sant Pau, Neurol Dept, Movement Disorders Unit, Barcelona, Spain
Moratalla, R:
CSIC, Inst Cajal, Madrid, Spain
Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
Vicario, C:
CSIC, Inst Cajal, Madrid, Spain
Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
Gold, Green Published
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