Utilize este identificador para referenciar este registo:
https://hdl.handle.net/1822/57943
Título: | Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation |
Autor(es): | Russ, Kaspar Marote, Ana Maria Franco Aveiro Savchenko, Ekaterina Collin, Anna Goldwurm, Stefano Pomeshchik, Yuriy Roybon, Laurent |
Palavras-chave: | Cell Line Cells, Cultured Humans Induced Pluripotent Stem Cells Kruppel-Like Transcription Factors Male Middle Aged Mutation Octamer Transcription Factor-3 Parkinson Disease Protein Kinases Proto-Oncogene Proteins c-myc SOXB1 Transcription Factors |
Data: | 2018 |
Editora: | Elsevier 1 |
Revista: | Stem Cell Research |
Citação: | Russ, K., Marote, A., Savchenko, E., Collin, A., Goldwurm, S., Pomeshchik, Y., & Roybon, L. (2018). Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p. Q456X mutation. Stem cell research, 27, 61-64 |
Resumo(s): | Parkinson's disease (PD) is a neurodegenerative disease with unknown etiology. Here we show the generation of an induced pluripotent stem cell (iPSC) line, named CSC-40, from dermal fibroblasts obtained from a 59-year-old male patient with a homozygous p.Q456X mutation in the PTEN-induced putative kinase 1 (PINK/PARK6) gene and a confirmed diagnosis of PD, which could be used to model familial PD. A non-integrating Sendai virus-based delivery of the reprogramming factors OCT3/4, SOX2, c-MYC and KLF4 was employed. The CSC-40 cell line showed normal karyotyping and fingerprinting following transduction as well as sustained expression of several pluripotency markers and the ability to differentiate into all three germ layers. |
Tipo: | Artigo |
URI: | https://hdl.handle.net/1822/57943 |
DOI: | 10.1016/j.scr.2018.01.001 |
ISSN: | 1873-5061 |
Versão da editora: | https://www.sciencedirect.com/science/article/pii/S1873506118300011 |
Arbitragem científica: | yes |
Acesso: | Acesso aberto |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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Russ K. CSC40.pdf | 1,36 MB | Adobe PDF | Ver/Abrir |