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


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. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Lu X, Wang W, Liu Y, Song N, Li M, Mu X, Zhang N, Chen Q, Jiang L, Kong X, Sun P, Tong J, Zhang Y, Li J, Ma S, Han F
Journal Stem cell research
Publication Date 2022 Apr;60:102685
PubMed 35093716
DOI 10.1016/j.scr.2022.102685

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