Stem cell researchHumansCHARGE SyndromeInduced Pluripotent Stem CellsDNA HelicasesMutation
Generation of a human induced pluripotent stem cell line from a CHARGE syndrome patient with CHD7 mutation (c.3982C>T).
Yunqian Zhu, Peng Zhang, Meiling Zhang, Yuan Xu, Wenhao Zhou, Guoqiang Cheng, Man Xiong
Published: 202610.1016/j.scr.2025.103876
Abstract
CHARGE syndrome is a multisystem neurodevelopmental disorder characterized by coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities. The CHD7 gene is the causal gene. A human iPSC line harboring a…
Preview only. Read the full abstract at the source