Generation of a pluripotent embryonic stem cell TAFAZZIN hESC model (WAe009-A-3H) of Barth syndrome

Abstract

Barth syndrome is among the most common mitochondrial diseases presenting with cardiomyopathy. We have generated a human embryonic stem cell (hESC) model of Barth syndrome (TAFAZZINΔ3 C15) in a female background (H9 hESC) using CRISPR/Cas9 gene editing, with compound heterozygous variants in TAFAZZIN that result in exon 3 skipping in all stable transcripts. This cell line displayed characteristics consistent with pluripotent stem cells, including typical colony morphology, expression of pluripotency markers, trilineage potential, and a normal karyotype. This TAFAZZINΔ3 C15 line could be used for investigation of disease mechanisms in mitochondrial cardiomyopathy and preclinical therapeutic s..