Generation of a human induced pluripotent stem cell line (FDIBSi002-A) derived from a patient with DYRK1A syndrome carrying a heterozygous DYRK1A mutation (c.1042G>A)
Summary
DYRK1A syndrome is a neurodevelopmental disorder caused by DYRK1A haploinsufficiency. We generated a human induced pluripotent stem cell (iPSC) line, FDIBSi002-A, from a 4-year-old female patient carrying a de novo heterozygous c.1042G>A (p.G348R) mutation in DYRK1A. Peripheral blood mononuclear cells (PBMCs) were reprogrammed using non-integrating episomal vectors. The established iPSC line exhibited a normal karyotype (46, XX), expressed pluripotency markers, and demonstrated trilineage differentiation potential. This patient-specific cell line provides a valuable model for investigating the pathogenic mechanisms of DYRK1A-related intellectual disability and for drug screening. Copyright © 2026 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Peng X, Li Y, Zhang M, Wang H, Zhou W, Xiong M |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Jan 26;91:103917 |
| PubMed | 41621215 |
| DOI | 10.1016/j.scr.2026.103917 |