Work

Heterozygous GAT1 (GABA transporter 1) G307R variant-carrying iPSC line (FINi007-A) from a male SLC6A1 epileptic encephalopathy patient

Year: 2025

Type: article

Abstract: -dependent GABA (gamma-aminobutyric acid) transporter protein, GAT1, thought to act as a key mediator of the presynaptic GABA reuptake by neurons and astrocytes. We generated and characterised an induced pluripotent stem cell (iPSC) line from the fibroblasts of a neurodevelopmental disorder-affected boy, carrying a disease-causing variant in GAT1 (G307R), likely affecting neurotransmitter membrane permeation and intracellular trafficking of the transporter. This iPSC line exhibits typical human iPSCs features, expression of pluripotency-associated marker genes, ability to give rise to cells representing three embryonic germ layers, and a normal karyotype. We expect this iPSC line to aid in the in vitro modelling of, and development of precision therapies for, debilitating neurodevelopmental conditions caused by the variants in the SLC6A1 gene.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2025.103868

Authors: Dmitry A. Ovchinnikov, Sharon Jong, Saul Mullen, Steve Petrou

Institutions: The University of Melbourne, Florey Institute of Neuroscience and Mental Health, Austin Health, Praxis Precision Medicines Inc. (United States)

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