Lu Xinguo, Mai Jiahui, Liu Liqin, Chen Xiaoyu, Shen Yansheng
Department of Neurology, Shenzhen Children's Hospital, Shenzhen, Guangdong, China.
Aegicare (Shenzhen) Technology Co., Ltd., Shenzhen 518060, China.
Stem Cell Res. 2022 Apr;60:102706. doi: 10.1016/j.scr.2022.102706. Epub 2022 Feb 10.
Keipert syndrome（KS, OMIM:301026) is a rare X-linked recessive inherited disorder characterized by distinctive facial appearance and digital abnormalities, and the disease is caused by hemizygous mutations in the GPC4 gene encoding the heparan sulfate proteoglycan glypican 4. We first established an induced pluripotent stem cell line (ATCi002-A) from PBMCs collected from a two-year-old boy patient with c.877 + 1G > A variant in the GPC4 gene, via reprogramming with KLF4, SOX2, OCT3/4, and c-MYC. Through identification examination, the iPSCs (ATCi002-A) stably expressed pluripotency-associated stem cell markers, and maintained a normal karyotype, and showed proliferative potential for differentiation of the three-germ layer.
凯珀特综合征（KS，OMIM：301026）是一种罕见的X连锁隐性遗传性疾病，其特征为独特的面部外观和手指异常，该疾病由编码硫酸乙酰肝素蛋白聚糖磷脂酰肌醇蛋白聚糖4的GPC4基因中的半合子突变引起。我们首先从一名患有GPC4基因c.877 + 1G > A变异的两岁男童患者采集的外周血单个核细胞（PBMC）中，通过用KLF4、SOX2、OCT3/4和c-MYC进行重编程，建立了诱导多能干细胞系（ATCi002-A）。通过鉴定检查，诱导多能干细胞（ATCi002-A）稳定表达多能性相关干细胞标志物，维持正常核型，并显示出三胚层分化的增殖潜力。
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