Generation of an induced pluripotent stem cell (iPSC) line from a Parkinson’s disease patient with a pathogenic LRP10/c.688C > T(p.Arg230Trp) mutation

Male QH301-705.5 Induced Pluripotent Stem Cells Mutation Humans Parkinson Disease Cell Differentiation Biology (General) LDL-Receptor Related Proteins Cell Line
DOI: 10.1016/j.scr.2024.103359 Publication Date: 2024-03-03T15:36:26Z
ABSTRACT
Parkinson's disease (PD) is a highly prevalent and severe neurodegenerative disease that affects more than 10 million individuals worldwide. Pathogenic mutations in LRP10 have been associated with autosomal dominant PD. Here, we report an induced pluripotent stem cell (iPSC) line generated from a PD patient harboring the LRP10 c.688C > T (p.Arg230Trp) variant. Skin fibroblasts from the PD patient were successfully reprogrammed into iPSCs that expressed pluripotency markers, a normal karyotype, and the capacity to differentiate into the three germ layers in vivo. This iPSC line is a potential resource for studying the pathogenic mechanisms of PD.
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