Children's Hospital Affiliated to Shandong University, Ji'nan 250022, China.
Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Ji'nan 250022, China.
Stem Cell Res. 2023 Sep;71:103132. doi: 10.1016/j.scr.2023.103132. Epub 2023 Jun 7.
The pathogenic mutations of Synaptic Ras GTPase-activating protein 1 (SYNGAP1) gene (OMIM #603384) have been tightly associated with a neurodevelopmental disease, also called autosomal dominant mental retardation type 5 (MRD5, OMIM #612621). We generated a human iPS cell line from a 34-month-old young girl bearing a recurrent heterozygous mutation (c.427C > T) of SYNGAP1. This cell line has great performance in pluripotency and shows differentiation potential towards three germ layers in vitro.
突触 Ras GTP 酶激活蛋白 1（SYNGAP1）基因（OMIM#603384）的致病突变与一种神经发育疾病密切相关，也称为常染色体显性智力障碍 5 型（MRD5，OMIM#612621）。我们从一名 34 个月大的年轻女孩中生成了一个携带 SYNGAP1 复发性杂合突变（c.427C>T）的人诱导多能干细胞系。该细胞系在多能性方面表现出色，并显示出体外向三个胚层分化的潜力。
