An induced pluripotent stem cell line (GZHMCi004-A) derived from a fetus with heterozygous G380R mutation in FGFR3 gene causing achondroplasia
Nan Li, Sheng Mou Lin, Yingting Li, Jimei Sun, Luting Zhang, Min Chen
Journal：Stem Cell Research
IF：2.02
DOI：10.1016/j.scr.2021.102322
PMID：33848795
Published：2021-04-05
research field：细胞生物学干细胞研究血液学遗传学发育生物学
Abstract
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.
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