Generation of a human induced pluripotent stem cell line (FDIBSi001-A) from a patient with ADNP syndrome carrying ADNP mutation (c. 2059 T>C)
Summary
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 embryonic stem cell-like morphology, normal karyotype, pluripotency, and ability to differentiate into three germ layers. This iPSC line provides a useful resource to study the pathogenesis and drug screening of ADNP syndrome. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Mengnan W, Yan C, Qiong X, Man X |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103550 |
| PubMed | 39307104 |
| DOI | 10.1016/j.scr.2024.103550 |