Derivation of an induced pluripotent stem cell line (MUSIi004-A) from dermal fibroblasts of a 48-year-old spinocerebellar ataxia type 3 patient


Dermal fibroblasts were obtained from a 48-year-old female patient with spinocerebellar ataxia type 3 (SCA3). Fibroblasts were reprogrammed by nucleofection with episomal plasmids, carrying L-MYC, LIN28, OCT4, SOX2, KLF4, EBNA-1 and shRNA against p53. The SCA3 patient-specific iPSC line, MUSIi004-A, was characterized by immunofluorescence staining to verify the expression of pluripotent markers. The iPSC line exhibited an ability to differentiate into three germ layers by embryoid body (EB) formation. Karyotypic analysis of the MUSIi004-A line was normal. The mutant allele was still present in the iPSC line. This iPSC line represents a useful tool for studying neurodegeneration in SCA3. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Ritthaphai A, Wattanapanitch M, Pithukpakorn M, Heepchantree W, Soi-Ampornkul R, Mahaisavariya P, Triwongwaranat D, Pattanapanyasat K, Vatanashevanopakorn C
Journal Stem cell research
Publication Date 2018 Jul;30:113-116
PubMed 29852467
DOI 10.1016/j.scr.2018.05.012

Research Projects

Cell Lines