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)

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.

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Publication Details

Journal
Stem Cell Research
Published
2026-01-26
DOI
https://doi.org/10.1016/j.scr.2026.103917
Primary Topic
Down syndrome and intellectual disability research
Type
article
Field-Weighted Citation Impact
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article

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)

H. Wang, Xingsheng Peng, Meilin Zhang, Yuan Li et al.
Stem Cell Research
Down syndrome and intellectual disability research
article

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)

H. Wang, Xingsheng Peng, Meilin Zhang, Yuan Li, Wenhao Zhou, Man Xiong
article en

Abstract

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.

Stem Cell ResearchVol. 91
Chinese Academy of Sciences (CN), Fudan University (CN), Center for Excellence in Brain Science and Intelligence Technology (CN), Guangzhou Women and Children Medical Center (CN), Children's Hospital of Fudan University (CN), Guangzhou Medical University (CN)
Openalex Percentile: Top 78%
Down syndrome and intellectual disability research
DOIOpen Access PDFOpenAlex
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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) — H. Wang, Xingsheng Peng, et al. · Stem Cell Research (2026) | TGRS Research Map | TGRS