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An induced pluripotent stem cell line (GZHMCi004-A) derived from a fetus with heterozygous G380R mutation in FGFR3 gene causing achondroplasia.

Stem cell research - 1 May 2021

Li Nan, Lin Sheng Mou, Li Yingting, Sun Jimei, Zhang Luting, Chen Min

Abstract excerpt

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...

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PMID: 33848795
DOI: 10.1016/j.scr.2021.102322

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