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Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene
C. Machuca, A. Vilches, E. Clemente, SI. Pascual-Pascual, A. Bolinches-Amorós, A. Artero Castro, C. Espinos, M. Leon, P. Jendelova, S. Erceg,
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem
Open Access Digital Library od 2007-10-01
Open Access Digital Library od 2014-01-01
Elsevier Open Access Journals od 2007-10-01
ROAD: Directory of Open Access Scholarly Resources od 2007
Odkazy
PubMed
30384130
DOI
10.1016/j.scr.2018.10.016
Knihovny.cz E-zdroje
- MeSH
- dospělí MeSH
- indukované pluripotentní kmenové buňky metabolismus MeSH
- lidé MeSH
- mutace MeSH
- proteiny tepelného šoku genetika MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
The human iPSC cell line, CARS-FiPS4F1 (ESi064-A), derived from dermal fibroblast from the apparently healthy carrier of the mutation of the gene SACSIN, 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. This iPSC line can be used as control for Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) disease.
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- $a Machuca, Candela $u Stem Cells Therapies in Neurodegenerative Diseases Lab, Centro de Investigacion Principe Felipe (CIPF), Valencia, Spain; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders and Service of Genomics and Translational Genetics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
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- $a The human iPSC cell line, CARS-FiPS4F1 (ESi064-A), derived from dermal fibroblast from the apparently healthy carrier of the mutation of the gene SACSIN, 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. This iPSC line can be used as control for Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) disease.
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