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

doi:10.1016/j.scr.2021.102322

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

Stem Cell Res. 2021 May:53:102322. doi: 10.1016/j.scr.2021.102322. Epub 2021 Apr 5.

Authors

Nan Li¹, Sheng Mou Lin², Yingting Li¹, Jimei Sun¹, Luting Zhang¹, Min Chen³

Affiliations

¹ Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
² Department of Obstetrics and Gynecology, The University of Hong Kong - Shenzhen Hospital, Shenzhen 518053, China. Electronic address: linsm@hku-szh.org.
³ Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China. Electronic address: drchenmin2003@yahoo.com.hk.

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

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Achondroplasia* / genetics
Fetus
Humans
Induced Pluripotent Stem Cells*
Mutation
Receptor, Fibroblast Growth Factor, Type 3 / genetics

Substances

FGFR3 protein, human
Receptor, Fibroblast Growth Factor, Type 3