Heterozygous GAT1 (GABA transporter 1) G307R variant-carrying iPSC line (FINi007-A) from a male SLC6A1 epileptic encephalopathy patient
Summary
The human SLC6A1 gene encodes a Na+- and Cl--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. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Ovchinnikov DA, Jong S, Mullen S, Petrou S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Nov 12;89:103868 |
| PubMed | 41248596 |
| DOI | 10.1016/j.scr.2025.103868 |