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

Kaspar Russ; Ana Marote; Ekaterina Savchenko; Anna Collin; Stefano Goldwurm; Yuriy Pomeshchik; Laurent Roybon

doi:10.1016/j.scr.2018.01.001

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

Stem Cell Res. 2018 Mar:27:61-64. doi: 10.1016/j.scr.2018.01.001. Epub 2018 Jan 4.

Authors

Kaspar Russ¹, Ana Marote², Ekaterina Savchenko¹, Anna Collin³, Stefano Goldwurm⁴, Yuriy Pomeshchik¹, Laurent Roybon⁵

Affiliations

¹ Stem Cell Laboratory for CNS Disease Modeling, Wallenberg Neuroscience Center, Department of Experimental Medical Science, BMC A10, Lund University, Lund, Sweden; Strategic Research Area MultiPark, Lund University, Lund, Sweden; Lund Stem Cell Center, Lund University, Lund, Sweden.
² Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal; ICVS/3B's, PT Government Associate Laboratory, Braga, Guimarães, Portugal.
³ Department of Clinical Genetics and Pathology, Office for Medical Services, Division of Laboratory Medicine, Lund, Sweden.
⁴ Parkinson Institute, ASST PINI-CTO, Milan, Italy.
⁵ Stem Cell Laboratory for CNS Disease Modeling, Wallenberg Neuroscience Center, Department of Experimental Medical Science, BMC A10, Lund University, Lund, Sweden; Strategic Research Area MultiPark, Lund University, Lund, Sweden; Lund Stem Cell Center, Lund University, Lund, Sweden. Electronic address: [email protected].

PMID: 29331938
DOI: 10.1016/j.scr.2018.01.001

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Line
Cells, Cultured
Humans
Induced Pluripotent Stem Cells / metabolism*
Kruppel-Like Factor 4
Kruppel-Like Transcription Factors / genetics
Kruppel-Like Transcription Factors / metabolism
Male
Middle Aged
Mutation / genetics
Octamer Transcription Factor-3 / genetics
Octamer Transcription Factor-3 / metabolism
Parkinson Disease / genetics*
Parkinson Disease / metabolism
Protein Kinases / genetics*
Proto-Oncogene Proteins c-myc / genetics
Proto-Oncogene Proteins c-myc / metabolism
SOXB1 Transcription Factors / genetics
SOXB1 Transcription Factors / metabolism

Substances

KLF4 protein, human
Kruppel-Like Factor 4
Kruppel-Like Transcription Factors
MYC protein, human
Octamer Transcription Factor-3
POU5F1 protein, human
Proto-Oncogene Proteins c-myc
SOX2 protein, human
SOXB1 Transcription Factors
Protein Kinases
PTEN-induced putative kinase