Generation of a human iPSC line BCHNCi001-A from a patient with uridine-responsive epileptic encephalopathy carrying biallelic CAD mutations

[摘要] Mutations in CAD gene, encoding a multifunctional enzyme involved in de novo pyrimidine biosynthesis, has been reported to be associated with early-onset epileptic encephalopathy (EOEE). Herein, we generated an induced pluripotent stem cell (iPSC) line from the skin fibroblasts of a five-year-old boy with CAD deficiency, presented with developmental delay, refractory epilepsy, anemia with anisopoikilocytosis, and dramatic responsive to supplementation with oral uridine, carrying biallelic mutations, c.108delC (p.Tyr36Tyrfs*15) and c.3775G>A (p.Val1259Met) in CAD. These iPSCs exhibited stable amplification, expressed pluripotent markers, and differentiated spontaneously into three germ layers in vitro .

[学科分类] 生理学