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Generation of a human induced pluripotent stem cell line (FDIBSi001-A) from a patient with ADNP syndrome carrying ADNP mutation (c. 2059 T>C).

Stem cell research - 1 Dec 2024

Mengnan Wu, Yan Cheng, Qiong Xu, Man Xiong

Abstract excerpt

ADNP syndrome is a neurodevelopmental disorder characterized by autism, intellectual disability, and other physical and behavioral health manifestations. Mutations in ADNP gene is responsible for ADNP syndrome. A human iPSC line with a de novo heterozygous ADNP mutation (ADNP c. 2059 T>C) was generated from peripheral blood mononuclear cells of a patient with ADNP syndrome. This iPSC line showed typical human...

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PMID: 39307104
DOI: 10.1016/j.scr.2024.103550

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