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 Apr 5;53:102322
PubMed 33848795
DOI 10.1016/j.scr.2021.102322

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