Generation of a Friedreich's Ataxia patient-derived iPSC line USFi001-A

Mariana Burgos Angulo; Jiajia Yang; Mariana A Argenziano; Alexander C Bertalovitz; Maliheh Najari Beidokhti; Thomas V McDonald

doi:10.1016/j.scr.2021.102399

Generation of a Friedreich's Ataxia patient-derived iPSC line USFi001-A

Stem Cell Res. 2021 Jul:54:102399. doi: 10.1016/j.scr.2021.102399. Epub 2021 May 19.

Authors

Mariana Burgos Angulo¹, Jiajia Yang¹, Mariana A Argenziano², Alexander C Bertalovitz², Maliheh Najari Beidokhti², Thomas V McDonald³

Affiliations

¹ Department of Molecular Pharmacology and Physiology, Morsani College of Medicine, University of South Florida, Tampa, FL, USA.
² Heart Institute, Morsani College of Medicine - University of South Florida, Tampa FL, USA.
³ Department of Molecular Pharmacology and Physiology, Morsani College of Medicine, University of South Florida, Tampa, FL, USA; Heart Institute, Morsani College of Medicine - University of South Florida, Tampa FL, USA. Electronic address: [email protected].

PMID: 34034220
DOI: 10.1016/j.scr.2021.102399

Abstract

Friedreich's Ataxia (FA) is an autosomal recessive disorder with an incidence of 1 in 50,000 in Caucasians. Most cases are caused by a biallelic GAA expansion in the first intron of the Frataxin (FXN) gene. FA is a neurodegenerative disease, but the leading cause of death is hypertrophic cardiomyopathy (HCM) that develops in 60% of the patients. We generated an induced pluripotent stem cell (iPSC) line from an FA patient with a homozygous GAA expansion in intron 1 of the FXN gene. The IPSCs display pluripotent cell morphology, expression of pluripotency markers, normal karyotype, and the capability to differentiate into all three germ layers.

Publication types

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

MeSH terms

Cardiomyopathy, Hypertrophic*
Friedreich Ataxia* / genetics
Homozygote
Humans
Induced Pluripotent Stem Cells*
Neurodegenerative Diseases*
Trinucleotide Repeat Expansion