Generation of an induced pluripotent stem cell line GWCMCi006-A from a patient with autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures harboring GRIN1 c.389A > G mutation

• DOI: 10.1016/j.scr.2024.103371
• Publication Date: 2024-02-29T09:34:17Z
• Authors: Zhen Shi; Huan Liu; Fangmei Feng; Zhifang Huang; Wen-Xiong Chen
• Keywords: Reprogramming; Germ layer; Neurodevelopmental disorder; KLF4

Autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures (NDHMSD) is a rare neurological characterized by movement, seizures. Heterozygous mutation in the GRIN1 encoding subunit 1 of N-methyl-D-aspartate receptor caused this disorder. We first established an induced pluripotent stem cell (iPSC) line from male patient c.389A > G GRIN1, via reprogramming KLF4, SOX2, OCT3/4, c-MYC. Through identification examination, iPSCs (GWCMCi006-A) stably expressed pluripotency-associated markers, maintained normal karyotype, showed proliferative potential for three-germ layers differentiation.