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Article

Generation of a human iPSC line (FDCHi009-A) from a patient with CHARGE syndrome carrying a novel CHD7 mutation (c.2939 T > C).

Stem cell research - 1 Feb 2023

Peng Ting, Cheng Yan, Xiong Man, Cheng Guoqiang

Abstract excerpt

CHARGE syndrome (OMIM 214800) is an autosomal dominant disease with coloboma, heart defects, atresia of choanae and retardation of growth and/or development, etc. CHD7 mutation is the major known pathogenic cause in patients with CHARGE syndrome. A human iPSC line with a novel heterozygous mutation (CHD7 c.2939 T > C) was constructed from peripheral blood mononuclear cells of a patient with CHARGE syndrome. The...

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Source

Identifiers

PMID: 36502621
DOI: 10.1016/j.scr.2022.102996

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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