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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).

Stem cell research - 1 Mar 2026

Peng Xingsheng, Li Yuan, Zhang Meiling, Wang Huijun, Zhou Wenhao, Xiong Man

Abstract excerpt

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...

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Identifiers

PMID: 41621215
DOI: 10.1016/j.scr.2026.103917

Genes

DYRK1A

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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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).PMID 41621215Read ↗

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).Semantic proximity Read ↗

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