Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene
Language English Country England, Great Britain Media print-electronic
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
PubMed
30144656
DOI
10.1016/j.scr.2018.07.012
PII: S1873-5061(18)30180-6
Knihovny.cz E-resources
- MeSH
- Cell Line MeSH
- Induced Pluripotent Stem Cells metabolism MeSH
- Kruppel-Like Factor 4 MeSH
- Humans MeSH
- Adolescent MeSH
- Mutation MeSH
- Spinocerebellar Ataxias congenital genetics MeSH
- Muscle Spasticity genetics MeSH
- Check Tag
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't 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.
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