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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 research - 1 Jun 2023

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

Abstract excerpt

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...

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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