Establishment and characterization of human induced pluripotent stem cell line from a Parkinson’s disease patient harboring VPS13A gene mutation

Autor: Xianjie Lu, Wei Wang, Yanming Liu, Na Song, Mengpeng Li, Xin Mu, Nan Zhang, Qingfa Chen, Licheng Jiang, Xianglin Kong, Peng Sun, Jiabei Tong, Yunping Zhang, Jingtao Li, Shengjun Ma, Fabin Han
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Stem Cell Research, Vol 60, Iss , Pp 102685- (2022)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2022.102685
Popis: Mutations in VPS13 gene have been recently reported as a genetic cause of Parkinson's disease (PD). In this study, we isolated the skin fibroblasts from a PD patient harboring VPS13A gene mutation (c. 4282_4289delinsA) and reprogrammed the fibroblasts to a novel patient-specific induced pluripotent stem cell (iPSC) line LCPHi002-A using transgene-free episomal plasmids to express OCT3/4, SOX2, KLF4, L-MYC, and LIN28. The LCPHi002-A line showed the normal karyotype, expression of pluripotency markers, and had multi-lineage differentiation capacity in vivo. This iPSC line of LCPHi002-A could be used for studying pathogenic mechanisms of PD.
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