Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene
Summary
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. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Arellano CM, Vilches A, Clemente E, Pascual-Pascual SI, Bolinches-Amorós A, Castro AA, Espinos C, Rodriguez ML, Jendelova P, Erceg S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2018 Aug;31:249-252 |
| PubMed | 30144656 |
| DOI | 10.1016/j.scr.2018.07.012 |