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

著者 Rodríguez-Traver E , Rodríguez C , Díaz-Guerra E , Arenas F , Araúzo-Bravo M , Orera M , Kulisevsky J , Moratalla R , Vicario C
Stem Cell Res.2019 Sep 12 ; 40():101578.
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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.
PMID: 31539859 [PubMed - as supplied by publisher]
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