Chen Min, Lin Sheng Mou, Li Nan, Li Yingting, Li Yufan, Zhang Luting
Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, PR China.
The First School of Clinical Medicine, Southern Medical University, Guangzhou 510515, PR China; Department of Obstetrics and Gynecology, The University of Hong Kong - Shenzhen Hospital, Shenzhen 518053, PR China.
Stem Cell Res. 2021 Mar;51:102166. doi: 10.1016/j.scr.2021.102166. Epub 2021 Jan 9.
Cleidocranial dysplasia (CCD; MIM #119600) is an autosomal dominant genetic disorder caused by heterozygous loss-of-function mutation of the RUNX2 gene, which is important in the differentiation of osteoblasts and maturation of chondrocytes. In this study, we generated an induced pluripotent stem cell line GZHMCi003-A derived from umbilical cord blood mononuclear cells (UCBMCs) of a fetus with heterozygous deletion of the exon 3 in RUNX2 gene. This iPSC line is an ideal in vitro model to study the pathological mechanism and the treatment of CCD.
锁骨颅骨发育不全（CCD；MIM #119600）是一种常染色体显性遗传病，由RUNX2基因杂合功能丧失突变引起，该基因在成骨细胞分化和软骨细胞成熟过程中起重要作用。在本研究中，我们从一名RUNX2基因外显子3杂合缺失胎儿的脐带血单个核细胞（UCBMCs）中生成了诱导多能干细胞系GZHMCi003-A。该诱导多能干细胞系是研究CCD病理机制及治疗方法的理想体外模型。
