Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378041%3A_____%2F18%3A00494382" target="_blank" >RIV/68378041:_____/18:00494382 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1016/j.scr.2018.07.012" target="_blank" >http://dx.doi.org/10.1016/j.scr.2018.07.012</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.scr.2018.07.012" target="_blank" >10.1016/j.scr.2018.07.012</a>

Result language
angličtina
Original language name
Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene
Original language description
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.
Czech name
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Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10601 - Cell biology

Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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