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

Abstract:

: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.

journal_name

Stem Cell Res

journal_title

Stem cell research

authors

Machuca C,Vilches A,Clemente E,Pascual-Pascual SI,Bolinches-Amorós A,Artero Castro A,Espinos C,Leon M,Jendelova P,Erceg S

doi

10.1016/j.scr.2018.10.016

subject

Has Abstract

pub_date

2018-12-01 00:00:00

pages

166-170

eissn

1873-5061

issn

1876-7753

pii

S1873-5061(18)30261-7

journal_volume

33

pub_type

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