Generation of a human induced pluripotent stem cell line (FDCHi012-A) from a patient with DYRK1A-related intellectual disability syndrome carrying DYRK1A mutation (c.1024G > T)
Summary
DYRK1A haploinsufficiency causes a neurodevelopmental syndrome termed DYRK1A-related intellectual disability syndrome which is associated with a range of symptoms including microcephaly, epileptic seizures, and autism spectrum disorder. Here, we generated an induced Pluripotent Stem Cell (iPSC) line with a de novo missense mutation (DYRKIA c.1024G > T) from the peripheral blood mononuclear cells of a patient with DYRK1A-related intellectual disability syndrome. This iPSC line showed normal karyotype, exhibited pluripotency, and has three embryonic germ layers differentiation capacity. This iPSC line will be of great use in investigating the disease mechanisms and drug screening for patients with DYRK1A-related intellectual disability syndrome. Copyright © 2024. Published by Elsevier B.V.
| Authors | Ge Y, Cheng Y, Yin T, Peng X, Xiong Z, Wu B, Wang H, Xiong M, Zhou W |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Apr;76:103345 |
| PubMed | 38382213 |
| DOI | 10.1016/j.scr.2024.103345 |