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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/2ff887a2-3f0b-4dfc-9d80-a7b6089f5e1e
- author
- 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. (More)
- 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
; Salgado, António J.
; Klementieva, Oxana
LU
; Roybon, Laurent
LU
and Savchenko, Ekaterina
LU
(Less)
- 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
- 2024-02-14 15:37:16
@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}},
}