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.

中文翻译：

---

诱导多能干细胞系（GZHMCi003-A）来源于胎儿，该胎儿在RUNX2基因中外显子3杂合缺失，导致颅骨发育不良

颅骨发育不良（CCD; MIM＃119600）是一种常染色体显性遗传疾病，由RUNX2基因的杂合功能丧失突变引起，这对成骨细胞的分化和软骨细胞的成熟很重要。在这项研究中，我们从RUNX2基因中外显子3杂合缺失的胎儿的脐带血单核细胞（UCBMCs）产生了诱导的多能干细胞系GZHMCi003-A 。该iPSC系是研究CCD的病理机制和治疗的理想体外模型。