Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene


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. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Machuca C, Vilches A, Clemente E, Pascual-Pascual SI, Bolinches-Amorós A, Artero Castro A, Espinos C, Leon M, Jendelova P, Erceg S
Journal Stem cell research
Publication Date 2018 Dec;33:166-170
PubMed 30384130
DOI 10.1016/j.scr.2018.10.016

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