Generation of a pluripotent human AGK knockout embryonic stem cell model (WAe009-A-3C) of Sengers syndrome
Sengers syndrome is a rare mitochondrial disorder caused by the loss of a nuclear encoded mitochondrial protein, acylglycerol kinase (AGK). Here, we describe the generation of a novel in vitro stem cell model of Sengers syndrome (AGK<sup>KO</sup> C10) using CRISPR/Cas9 gene editing. This cell line displayed normal characteristics of pluripotent stem cells, including colony morphology, expression of pluripotency markers, trilineage potential, and no karyotypic abnormalities. Together with the parental H9 hESC control line, the AGK<sup>KO</sup> C10 line can ultimately be used for investigation of disease mechanisms and drug testing.
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)
- Diana Stojanovski
- Ann E. Frazier
Institutions
- The University of Melbourne (AU)
- Victorian Clinical Genetics Services (AU)
- Murdoch Children's Research Institute (AU)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-12-22
- DOI
- https://doi.org/10.1016/j.scr.2025.103895
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00