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Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients
C. Machuca, M. Correa-Vela, D. García-Navas, A. Darling, I. Villalón-García, JA. Sánchez-Alcázar, B. Pérez-Dueñas, S. Erceg, C. Espinós
Jazyk angličtina Země Velká Británie
Typ dokumentu časopisecké články, práce podpořená grantem
NLK
Directory of Open Access Journals
od 2014
Open Access Digital Library
od 2007-10-01
Open Access Digital Library
od 2014-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2007
- MeSH
- buněčná diferenciace MeSH
- buněčné linie MeSH
- fosfolipasy A2, skupina VI MeSH
- indukované pluripotentní kmenové buňky * MeSH
- lidé MeSH
- mutace MeSH
- neuroaxonální dystrofie * MeSH
- přeprogramování buněk MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
The human iPSC cell lines, PLANFiPS1-Sv4F-1 (RCPFi004-A), PLANFiPS2-Sv4F-1 (RCPFi005-A), PLANFiPS3-Sv4F-1 RCPFi006-A), derived from dermal fibroblast from three patients suffering PLAN (PLA2G6-associated neurodegeneration; MIM 256600) caused by mutations in the PLA2G6 gene, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 reprogramming factors. The pluripotency was assessed by immunocytochemistry and RT-PCR. Differentiation capacity was verified in vitro. This iPSC line can be further differentiated toward affected cells to better understand molecular mechanisms of disease and pathophysiology.
Centro Andaluz de Biología del Desarrollo Universidad Pablo de Olavide Seville Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras Madrid Spain
Department of Genetics Universitat de València Valencia Spain
Department of Pediatric Neurology Hospital Universitario San Pedro de Alcántara Cáceres Spain
Rare Diseases Joint Units CIPF IIS La Fe and INCLIVA Valencia Spain
Unit of Pediatric Movement Disorders Hospital Sant Joan de Déu Barcelona Spain
Unit of Rare Neurodegenerative Diseases Centro de Investigación Príncipe Felipe Valencia Spain
Citace poskytuje Crossref.org
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