Generation of a human induced pluripotent stem cell line (FDCHi010-A) from a patient with Xia-Gibbs syndrome carrying AHDC1 mutation (c.2062C > T)

Tingting Yin; Bingbing Wu; Ting Peng; Yunfei Liao; Shuangyun Jiao; Huijun Wang

doi:10.1016/j.scr.2023.103118

Generation of a human induced pluripotent stem cell line (FDCHi010-A) from a patient with Xia-Gibbs syndrome carrying AHDC1 mutation (c.2062C > T)

Stem Cell Res. 2023 Jun:69:103118. doi: 10.1016/j.scr.2023.103118. Epub 2023 May 6.

Authors

Tingting Yin¹, Bingbing Wu¹, Ting Peng², Yunfei Liao¹, Shuangyun Jiao¹, Huijun Wang³

Affiliations

¹ Center for Molecular Medicine, Children's Hospital of Fudan University, Shanghai 201102, China.
² Department of Neonatology, Children's Hospital of Fudan University, Shanghai 201102, China.
³ Center for Molecular Medicine, Children's Hospital of Fudan University, Shanghai 201102, China. Electronic address: huijunwang@fudan.edu.cn.

PMID: 37216737
DOI: 10.1016/j.scr.2023.103118

Abstract

A human induced pluripotent stem cell line (iPSC), FDCHi010-A, was derived from the peripheral blood of a 3-year-old patient with the c.2062C > T (p.R688*) mutation in the AHDC1 gene. The established cell line displayed a typical human embryonic stem cell-like morphology, exhibited a normal euploid karyotype, and fully expressed pluripotency markers. In addition, it retained the ability to differentiate to three germ layers. This cell line with a specific mutation may provide a useful tool for studying the pathogenesis and drug therapy screening of Xia-Gibbs syndrome caused by the AHDC1 gene.

Publication types

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

MeSH terms

Cell Line
Child, Preschool
DNA-Binding Proteins / genetics
Humans
Induced Pluripotent Stem Cells* / metabolism
Mutation / genetics

Substances

AHDC1 protein, human
DNA-Binding Proteins