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
(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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- author
- organization
- publishing date
- 2019
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Stem Cell Research
- volume
- 34
- article number
- 101373
- publisher
- Elsevier
- external identifiers
-
- pmid:30640063
- 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
- 2024-08-20 08:28:30
@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>}}, 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}}, doi = {{10.1016/j.scr.2018.101373}}, volume = {{34}}, year = {{2019}}, }