Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation


Parkinson's disease (PD) is a neurodegenerative disease with unknown etiology. Here we show the generation of an induced pluripotent stem cell (iPSC) line, named CSC-40, from dermal fibroblasts obtained from a 59-year-old male patient with a homozygous p.Q456X mutation in the PTEN-induced putative kinase 1 (PINK/PARK6) gene and a confirmed diagnosis of PD, which could be used to model familial PD. A non-integrating Sendai virus-based delivery of the reprogramming factors OCT3/4, SOX2, c-MYC and KLF4 was employed. The CSC-40 cell line showed normal karyotyping and fingerprinting following transduction as well as sustained expression of several pluripotency markers and the ability to differentiate into all three germ layers. Copyright © 2018. Published by Elsevier B.V.

Authors Russ K, Marote A, Savchenko E, Collin A, Goldwurm S, Pomeshchik Y, Roybon L
Journal Stem cell research
Publication Date 2018 Mar;27:61-64
PubMed 29331938
DOI 10.1016/j.scr.2018.01.001

Research Projects

Cell Lines