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Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene
CM. Arellano, A. Vilches, E. Clemente, SI. Pascual-Pascual, A. Bolinches-Amorós, AA. Castro, C. Espinos, ML. Rodriguez, P. Jendelova, S. Erceg,
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu kazuistiky, 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
- buněčné linie MeSH
- indukované pluripotentní kmenové buňky metabolismus MeSH
- lidé MeSH
- mladiství MeSH
- mutace MeSH
- spinocerebelární ataxie vrozené genetika MeSH
- svalová spasticita genetika MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
The human iPSC cell line, ARS-FiPS4F1 (ESi063-A), derived from dermal fibroblast from the patient autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutations on 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. 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.
Citace poskytuje Crossref.org
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- $a The human iPSC cell line, ARS-FiPS4F1 (ESi063-A), derived from dermal fibroblast from the patient autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutations on 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. 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.
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