Department of Neurology, Shanghai Children's Hospital, Shanghai JiaoTong University, Shanghai 200062, China.
NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai 200040, China.
Stem Cell Res. 2021 May;53:102292. doi: 10.1016/j.scr.2021.102292. Epub 2021 Mar 17.
Mental retardation, X-linked 21/34 (MRX21/34), is a rare intellectual disability disease caused by mutations in the IL1RAPL1 (Interleukin-1 Receptor Accessory Protein-Like 1) gene. Using Sendai virus-mediated reprogramming, we established an induced pluripotent stem cell (iPSC) line from PBMCs collected from a ten-year-old boy with MRX21/34. The iPSCs showed stable amplification, expressed pluripotent genes, displayed a normal karyotype, and had characteristics of trilineage differentiation potential in an in vitro differentiation assay.
X 连锁 21/34 型智力障碍（MRX21/34）是一种由 IL1RAPL1（白细胞介素 1 受体辅助蛋白样 1）基因突变引起的罕见智力障碍疾病。我们利用仙台病毒介导的重编程技术，从一名十岁患有 MRX21/34 的男孩的外周血单核细胞中建立了一个诱导多能干细胞（iPSC）系。该 iPSC 系具有稳定的扩增能力，表达多能基因，具有正常核型，并在体外分化实验中表现出三系分化潜能的特征。
