An induced pluripotent stem cell line (GZHMCi003-A) derived from a fetus with exon 3 heterozygous deletion in RUNX2 gene causing cleidocranial dysplasia

作者：Chen, Min^*; Lin, Sheng Mou^*; Li, Nan; Li, Yingting; Li, Yufan; Zhang, Luting

来源：Stem Cell Research, 2021, 51: 102166.

DOI：10.1016/j.scr.2021.102166

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.

• 单位
  广州医学院; 1; 南方医科大学