Generation of a pluripotent embryonic stem cell TAFAZZIN hESC model (WAe009-A-3H) of Barth syndrome
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 (TAFAZZIN<sup>Δ3</sup> 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 TAFAZZIN<sup>Δ3</sup> C15 line could be used for investigation of disease mechanisms in mitochondrial cardiomyopathy and preclinical therapeutic screening.
Authors
- Yau Chung Low (ORCID: https://orcid.org/0009-0009-9799-2993)
- Cameron L. McKnight (ORCID: https://orcid.org/0000-0002-4143-0731)
- David R. Thorburn (ORCID: https://orcid.org/0000-0002-7725-9470)
- David A. Elliott (ORCID: https://orcid.org/0000-0003-1052-7407)
- Ann E. Frazier
Institutions
- Victorian Clinical Genetics Services (AU)
- Murdoch Children's Research Institute (AU)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2026-03-03
- DOI
- https://doi.org/10.1016/j.scr.2026.103948
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00