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

被引：0
|
作者：
Li, Nan [1 ]
Lin, Sheng Mou [2 ]
Li, Yingting [1 ]
Sun, Jimei [1 ]
Zhang, Luting [1 ]
Chen, Min [1 ]
机构：
[1] Guangzhou Med Univ, Affiliated Hosp 3, Dept Obstet & Gynecol, Dept Fetal Med & Prenatal Diag,Key Lab Major Obst, Guangzhou, Peoples R China
[2] Univ Hong Kong, Shenzhen Hosp, Dept Obstet & Gynecol, Shenzhen 518053, Peoples R China
来源：
STEM CELL RESEARCH | 2021年 / 53卷
关键词：
D O I：
10.1016/j.scr.2021.102322
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
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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