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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

Gustavsson, Nadja LU ; Marote, Ana LU ; Pomeshchik, Yuriy LU ; Russ, Kaspar LU ; Azevedo, Carla LU ; Chumarina, Margarita LU ; Goldwurm, Stefano; Collin, Anna LU ; Pinto, Luisa and Salgado, António J., et al. (2019) In Stem Cell Research 34.
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.

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published
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Stem Cell Research
volume
34
publisher
Elsevier
external identifiers
  • scopus:85059679452
ISSN
1873-5061
DOI
10.1016/j.scr.2018.101373
language
English
LU publication?
yes
id
2ff887a2-3f0b-4dfc-9d80-a7b6089f5e1e
date added to LUP
2019-01-22 13:09:23
date last changed
2019-02-20 11:43:49
@article{2ff887a2-3f0b-4dfc-9d80-a7b6089f5e1e,
  abstract     = {<p>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.</p>},
  articleno    = {101373},
  author       = {Gustavsson, Nadja and Marote, Ana and Pomeshchik, Yuriy and Russ, Kaspar and Azevedo, Carla and Chumarina, Margarita and Goldwurm, Stefano and Collin, Anna and Pinto, Luisa and Salgado, António J. and Klementieva, Oxana and Roybon, Laurent and Savchenko, Ekaterina},
  issn         = {1873-5061},
  language     = {eng},
  publisher    = {Elsevier},
  series       = {Stem Cell Research},
  title        = {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},
  url          = {http://dx.doi.org/10.1016/j.scr.2018.101373},
  volume       = {34},
  year         = {2019},
}