Generation of a pluripotent human AGK knockout embryonic stem cell model (WAe009-A-3C) of Sengers syndrome
Summary
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 (AGKKO 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 AGKKO C10 line can ultimately be used for investigation of disease mechanisms and drug testing. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Low YC, McKnight CL, Stojanovski D, Thorburn DR, Frazier AE |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Feb;90:103895 |
| PubMed | 41496283 |
| DOI | 10.1016/j.scr.2025.103895 |