Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene
| Autor: | César Rodríguez, Eva Rodríguez-Traver, Marcos J. Araúzo-Bravo, Fabián Arenas, Carlos Vicario, Eva Díaz-Guerra, Rosario Moratalla, Jaime Kulisevsky, María Orera |
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| Přispěvatelé: | Ministerio de Economía y Competitividad (España), Fundación Ramón Areces |
| Rok vydání: | 2019 |
| Předmět: |
Male
0301 basic medicine Parkinson's disease Cellular differentiation Induced Pluripotent Stem Cells Mutation Missense Biology medicine.disease_cause Cell Line 03 medical and health sciences 0302 clinical medicine medicine Humans Missense mutation Induced pluripotent stem cell Gene lcsh:QH301-705.5 Cells Cultured Aged Mutation Dementia with Lewy bodies Cell Differentiation Parkinson Disease Cell Biology General Medicine medicine.disease 030104 developmental biology lcsh:Biology (General) Cancer research Glucosylceramidase Female Reprogramming 030217 neurology & neurosurgery Developmental Biology |
| Zdroj: | Stem Cell Research, Vol 40, Iss, Pp-(2019) Digital.CSIC. Repositorio Institucional del CSIC instname Stem Cell Research r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau |
| ISSN: | 1873-5061 |
| Popis: | 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. We thank Drs. Marta Martínez and Miquel Vila for sharing with us PD5 fibroblasts. We also thank Mª José Román for technical assistance. This work was funded by grants from the Spanish Ministerio de Economía y Competitividad (MINECO: SAF2013-47596-R and CIBERNED CB06/05/0065) to C.V., from CIBERNED CB06/05/0055 to R.M, from CIBERNED CB06/05/0041 to J.K., and from Fundación Ramón Areces (CIVP18A3941) to C.V. and R.M. E.R.-T. was supported by a FPI Fellowship from the MINECO. |
| Databáze: | OpenAIRE |
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