Work

Generation of a pluripotent human AGK knockout embryonic stem cell model (WAe009-A-3C) of Sengers syndrome

Year: 2025

Type: article

Abstract: 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 KO 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 KO C10 line can ultimately be used for investigation of disease mechanisms and drug testing

Source: Stem Cell Research

DOI: 10.1016/j.scr.2025.103895

Authors: Yau Chung Low, Cameron L. McKnight, Diana Stojanovski, David R. Thorburn, Ann E. Frazier

Institutions: The University of Melbourne, Murdoch Children's Research Institute, Royal Children's Hospital, Victorian Clinical Genetics Services

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,360