Generation of hiPSC lines from four pyridoxine-dependent epilepsy (PDE) patients carrying the variant c.1279G>C in ALDH7A1 in homozygosis
Summary
ALDH7A1 encodes for the enzyme catalyzing the third step of the lysine degradation pathway. Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine dependent epilepsy (PDE), of which the c.1279G>C (p.Glu427Gln) variant is the most commonly reported variant and is carried by 30% of PDE patients with European ancestry. In this study, hiPSC lines derived from four PDE patients carrying the c.1279G>C variant in homozygosis in ALDH7A1 were generated and fully characterized. These hiPSC lines can contribute to better understand the molecular mechanism of disease underlying PDE as well as serving as a model system to evaluate new therapeutic strategies. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Schuurmans IME, van Karnebeek CDM, Hoogendoorn ADM, Nadif Kasri N, Garanto A |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Sep;79:103480 |
| PubMed | 38936157 |
| DOI | 10.1016/j.scr.2024.103480 |