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Stem Cell Res. 2019 Jan;34:101373. doi: 10.1016/j.scr.2018.101373. Epub 2018 Dec 26.

Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene.

Author information

1
Medical Microspectroscopy, Department of Experimental Medical Science, Lund University, Lund, Sweden.
2
Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3B's, PT Government Associate Laboratory, Braga/Guimar√£es, Portugal.
3
Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, BMC D10, Lund University, Lund, Sweden; Strategic Research Area MultiPark, Lund Stem Cell Center, Lund University, Lund, Sweden.
4
Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy.
5
Department of Clinical Genetics and Pathology, Office for Medical Services, Division of Laboratory Medicine, Lund, Sweden.
6
Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, BMC D10, Lund University, Lund, Sweden; Strategic Research Area MultiPark, Lund Stem Cell Center, Lund University, Lund, Sweden. Electronic address: Laurent.roybon@med.lu.se.

Abstract

Mutations in the glucocerebrosidase (GBA) gene have been associated with the development of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line was generated from a 60-year old patient diagnosed with PD and carrying a new mutation variant p.R301C in GBA. Using non-integrating Sendai virus-based technology, we utilized OCT3/4, SOX2, c-MYC and KLF4 transcription factors to reprogram skin fibroblasts into iPSCs. The generated iPSC line retained the mutation, displayed expression of common pluripotency markers, differentiated into the three germ layers, and exhibited normal karyotype. The iPSC line can be further used for studying PD pathogenesis.

PMID:
30640063
DOI:
10.1016/j.scr.2018.101373
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