Journal article

Generation of Induced Pluripotent Stem Cell Lines from Friedreich Ataxia Patients

Jun Liu, Paul J Verma, Marguerite V Evans-Galea, Martin B Delatycki, Anna Michalska, Jessie Leung, Duncan Crombie, Joseph P Sarsero, Robert Williamson, Mirella Dottori, Alice Pebay

STEM CELL REVIEWS AND REPORTS | HUMANA PRESS INC | Published : 2011

Abstract

Friedreich ataxia (FRDA) is an autosomal recessive disorder characterised by neurodegeneration and cardiomyopathy. It is caused by a trinucleotide (GAA) repeat expansion in the first intron of the FXN gene that results in reduced synthesis of FXN mRNA and its protein product, frataxin. We report the generation of induced pluripotent stem (iPS) cell lines derived from skin fibroblasts from two FRDA patients. Each of the patient-derived iPS (FA-iPS) cell lines maintain the GAA repeat expansion and the reduced FXN mRNA expression that are characteristic of the patient. The FA-iPS cells are pluripotent and form teratomas when injected into nude mice. We demonstrate that following in vitro differ..

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Grants

Funding Acknowledgements

The authors are grateful to Ms L Corben for her help in the preparation of the ethics documentation, M. Pera for provision of TG-30 and to L. Li, M. Denham and K. Upton for technical assistance and helpful discussions. This work was supported by the Friedreich Ataxia Research Association (Australasia) and Friedreich's Ataxia Research Alliance.