Radboud University Medical Center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, the Netherlands; Emma Center for Personalized Medicine, Departments of Pediatrics and Human Genetics, Amsterdam University Medical Center, Amsterdam, the Netherlands.
Radboud University Medical Center, Department of Human Genetics, Nijmegen, the Netherlands.
Stem Cell Res. 2023 Sep;71:103173. doi: 10.1016/j.scr.2023.103173. Epub 2023 Jul 28.
Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy (PDE). ALDH7A1 encodes for the third enzyme of the lysine catabolism pathway. In this study a human isogenic ALDH7A1 knock-out iPSC line was created using CRISPR/Cas9 technology. One clone (SCTCi019-B) with biallelic deletions in ALDH7A1 was obtained and fully characterized, showing expression of pluripotency markers, a normal karyotype and no off-targets. Human-based models derived from this iPSC line will contribute to gain insights in the molecular mechanism of disease underlying PDE.
ALDH7A1 中的双等位基因致病性变异与吡哆醇依赖性癫痫（PDE）相关。ALDH7A1 编码赖氨酸分解代谢途径的第三种酶。在这项研究中，使用 CRISPR/Cas9 技术创建了人类同源 ALDH7A1 敲除 iPSC 系。获得了一个具有 ALDH7A1 双等位基因缺失的克隆（SCTCi019-B），并对其进行了全面表征，显示出多能性标记物的表达、正常核型和无脱靶效应。源自该 iPSC 系的基于人类的模型将有助于深入了解 PDE 相关疾病的分子机制。
