Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene
The L444P mutation in the GBA1 gene which encodes β-glucocerebrosidase-1, is a major risk factor for developing Parkinson's disease (PD) and dementia with Lewy bodies (DLB). We report the generation and characterization of an induced pluripotent stem cell (iPSC) line derived from a female PD pa...
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2019-10-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506119302089 |
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doaj-53bbc8ce3478446488cf6b190cc7d98c2020-11-24T21:11:15ZengElsevierStem Cell Research1873-50612019-10-0140Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 geneEva Rodríguez-Traver0César Rodríguez1Eva Díaz-Guerra2Fabián Arenas3Marcos Araúzo-Bravo4María Orera5Jaime Kulisevsky6Rosario Moratalla7Carlos Vicario8Instituto Cajal-Consejo Superior de Investigaciones Científicas (CSIC), Madrid, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, SpainServicio de Bioquímica Clínica, Hospital General Universitario Gregorio Marañón, Madrid, SpainInstituto Cajal-Consejo Superior de Investigaciones Científicas (CSIC), Madrid, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, SpainCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain; Movement Disorders Unit, Neurology Dept., Hospital Sant Pau, Barcelona, SpainBiodonostia Health Research Institute, San Sebastián, SpainServicio de Bioquímica Clínica, Hospital General Universitario Gregorio Marañón, Madrid, SpainCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain; Movement Disorders Unit, Neurology Dept., Hospital Sant Pau, Barcelona, SpainInstituto Cajal-Consejo Superior de Investigaciones Científicas (CSIC), Madrid, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, SpainInstituto Cajal-Consejo Superior de Investigaciones Científicas (CSIC), Madrid, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain; Corresponding author at: Instituto Cajal-Consejo Superior de Investigaciones Científicas (CSIC), Madrid, Spain.The L444P mutation in the GBA1 gene which encodes β-glucocerebrosidase-1, is a major risk factor for developing Parkinson's disease (PD) and dementia with Lewy bodies (DLB). We report the generation and characterization of an induced pluripotent stem cell (iPSC) line derived from a female PD patient carrying the L444P/wt mutation. The iPSC line presented a normal morphology, expressed endogenous pluripotency markers, could be differentiated into endodermal, mesodermal and ectodermal cells, was free from Sendai vectors and reprogramming factors, had a normal karyotype and maintained the original GBA1 genotype. Thus, this iPSC line can serve to establish cellular models of PD.http://www.sciencedirect.com/science/article/pii/S1873506119302089 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Eva Rodríguez-Traver César Rodríguez Eva Díaz-Guerra Fabián Arenas Marcos Araúzo-Bravo María Orera Jaime Kulisevsky Rosario Moratalla Carlos Vicario |
| spellingShingle |
Eva Rodríguez-Traver César Rodríguez Eva Díaz-Guerra Fabián Arenas Marcos Araúzo-Bravo María Orera Jaime Kulisevsky Rosario Moratalla Carlos Vicario Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene Stem Cell Research |
| author_facet |
Eva Rodríguez-Traver César Rodríguez Eva Díaz-Guerra Fabián Arenas Marcos Araúzo-Bravo María Orera Jaime Kulisevsky Rosario Moratalla Carlos Vicario |
| author_sort |
Eva Rodríguez-Traver |
| title |
Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene |
| title_short |
Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene |
| title_full |
Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene |
| title_fullStr |
Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene |
| title_full_unstemmed |
Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene |
| title_sort |
generation of an integration-free ipsc line, iccsici005-a, derived from a parkinson's disease patient carrying the l444p mutation in the gba1 gene |
| publisher |
Elsevier |
| series |
Stem Cell Research |
| issn |
1873-5061 |
| publishDate |
2019-10-01 |
| description |
The L444P mutation in the GBA1 gene which encodes β-glucocerebrosidase-1, is a major risk factor for developing Parkinson's disease (PD) and dementia with Lewy bodies (DLB). We report the generation and characterization of an induced pluripotent stem cell (iPSC) line derived from a female PD patient carrying the L444P/wt mutation. The iPSC line presented a normal morphology, expressed endogenous pluripotency markers, could be differentiated into endodermal, mesodermal and ectodermal cells, was free from Sendai vectors and reprogramming factors, had a normal karyotype and maintained the original GBA1 genotype. Thus, this iPSC line can serve to establish cellular models of PD. |
| url |
http://www.sciencedirect.com/science/article/pii/S1873506119302089 |
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