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

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 euplo...

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Bibliographic Details
Published in:Stem cell research 2023-06, Vol.69, p.103118-103118, Article 103118
Main Authors: Yin, Tingting, Wu, Bingbing, Peng, Ting, Liao, Yunfei, Jiao, Shuangyun, Wang, Huijun
Format: Article
Language:English
Subjects:
Cell Line
Child, Preschool
DNA-Binding Proteins - genetics
Humans
Induced Pluripotent Stem Cells - metabolism
Mutation - genetics
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Summary: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2023.103118