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


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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Chen M, Lin SM, Li N, Li Y, Li Y, Zhang L
Journal Stem cell research
Publication Date 2021 Mar;51:102166
PubMed 33477036
DOI 10.1016/j.scr.2021.102166

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