The mRNA-based reprogramming of fibroblasts from a SOD1E101G familial amyotrophic lateral sclerosis patient to induced pluripotent stem cell line UOWi007

Rachelle Balez; Tracey Berg; Monique Bax; Sonia Sanz Muñoz; Mauricio C Cabral-da-Silva; Martin Engel; Dzung Do-Ha; Claire H Stevens; Dominic Rowe; Shu Yang; Ian P Blair; Lezanne Ooi

doi:10.1016/j.scr.2020.101701

The mRNA-based reprogramming of fibroblasts from a SOD1^E101G familial amyotrophic lateral sclerosis patient to induced pluripotent stem cell line UOWi007

Stem Cell Res. 2020 Jan:42:101701. doi: 10.1016/j.scr.2020.101701. Epub 2020 Jan 16.

Authors

Affiliations

¹ Illawarra Health and Medical Research Institute, Wollongong, NSW 2522, Australia; School of Chemistry and Molecular Bioscience, University of Wollongong, Wollongong, NSW 2522, Australia.
² Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia.
³ Illawarra Health and Medical Research Institute, Wollongong, NSW 2522, Australia; School of Chemistry and Molecular Bioscience, University of Wollongong, Wollongong, NSW 2522, Australia. Electronic address: lezanne@uow.edu.au.

PMID: 32006803
DOI: 10.1016/j.scr.2020.101701

Abstract

Dermal fibroblasts were donated by a 43 year old male patient with clinically diagnosed familial amyotrophic lateral sclerosis (ALS), carrying the SOD1^E101G mutation. The induced pluripotent stem cell (iPSC) line UOWi007-A was generated using repeated mRNA transfections for pluripotency transcription factors Oct4, Klf4, Sox2, c-Myc, Lin28 and Nanog. The iPSCs carried the SOD1^E101G genotype and had a normal karyotype, expressed expected pluripotency markers and were capable of in vitro differentiation into endodermal, mesodermal and ectodermal lineages. This iPSC line may be useful for investigating familial ALS resulting from a SOD1^E101G mutation.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amyotrophic Lateral Sclerosis / genetics*
Cell Line
Fibroblasts / metabolism*
Humans
Kruppel-Like Factor 4
RNA, Messenger / metabolism
Superoxide Dismutase-1 / genetics*

Substances

KLF4 protein, human
Kruppel-Like Factor 4
RNA, Messenger
SOD1 protein, human
Superoxide Dismutase-1