An induced pluripotent stem cell line (GZHMCi004-A) derived from a fetus with heterozygous G380R mutation in FGFR3 gene causing achondroplasia
Summary
Achondroplasia (ACH; MIM #100800) is an autosomal dominant genetic disease caused by gain-of-function mutations in FGFR3 gene and results in short-limb dwarfism. Here, we generated an induced pluripotent stem cell line GZHMCi004-A derived from umbilical cord blood mononuclear cells (UCBMCs) of a fetus with heterozygous G380R mutation in FGFR3 gene. This iPSC line is a valuable in vitro model to study the pathological mechanism and the treatment of ACH. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Li N, Lin SM, Li Y, Sun J, Zhang L, Chen M |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 May;53:102322 |
| PubMed | 33848795 |
| DOI | 10.1016/j.scr.2021.102322 |