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

Min Chen; Sheng Mou Lin; Nan Li; Yingting Li; Yufan Li; Luting Zhang

doi:10.1016/j.scr.2021.102166

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

Stem Cell Res. 2021 Mar:51:102166. doi: 10.1016/j.scr.2021.102166. Epub 2021 Jan 9.

Authors

Min Chen¹, Sheng Mou Lin², Nan Li³, Yingting Li³, Yufan Li³, Luting Zhang³

Affiliations

¹ 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. Electronic address: drchenmin2003@yahoo.com.hk.
² 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. Electronic address: linsm@hku-szh.org.
³ 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.

PMID: 33477036
DOI: 10.1016/j.scr.2021.102166

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cleidocranial Dysplasia* / genetics
Core Binding Factor Alpha 1 Subunit / genetics
Exons / genetics
Fetus
Humans
Induced Pluripotent Stem Cells*

Substances

Core Binding Factor Alpha 1 Subunit
RUNX2 protein, human