Down's syndrome induced pluripotent stem cell as well as construction method and application thereof

By constructing induced pluripotent stem cells for Down syndrome and analyzing the expression profile of ncRNAs in their exosomes, differentially expressed ncRNAs were screened out, overcoming the shortcomings of existing prenatal diagnostic methods, achieving efficient screening of prenatal diagnostic biomarkers for Down syndrome, and improving the accuracy and reliability of diagnosis.

CN121874124APending Publication Date: 2026-04-17THE SECOND AFFILIATED HOSPITAL OF GUILIN MEDICAL UNIVERSITY
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Patent Information

Application Number
CN202610017643.X
Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
Filing Date
2026-01-07
Publication Date
2026-04-17

AI Technical Summary

Technical Problem

Existing prenatal diagnostic methods for Down syndrome lack sensitivity and specificity; animal models cannot fully reproduce the phenotype and genotype characteristics of human Down syndrome; the construction process of iPSCs is complex and has a low success rate; and the potential value of ncRNAs in disease diagnosis has not been fully explored.

Method used

We constructed induced pluripotent stem cells (DS-iPSCs) for Down syndrome, systematically analyzed the expression profile of ncRNAs in their derived exosomes, screened differentially expressed ncRNAs, and used RT-ddPCR technology to analyze the expression of differentially expressed ncRNAs in maternal peripheral blood in order to screen for biomarkers with potential prenatal diagnostic value.

Benefits of technology

A novel method for screening prenatal diagnostic biomarkers for Down syndrome was provided, a disease-specific iPSCs model was established, and biomarkers with potential diagnostic value were screened out, improving the accuracy and reliability of prenatal diagnosis.

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Abstract

The invention relates to the field of molecular biology, in particular to Down's syndrome induced pluripotent stem cells as well as a construction method and application thereof. Four transcription factor reprogramming methods of KLF4, OCT4, c-MYC and SOX2 are utilized to construct Down's syndrome induced pluripotent stem cells, an expression profile of non-coding RNA in derived exosomes of the Down's syndrome induced pluripotent stem cells is systematically analyzed, differentially expressed non-coding RNA is screened, an RT-ddPCR technology is further adopted to analyze the expression condition of the differentially expressed non-coding RNA in maternal peripheral blood, and the DDown's syndrome induced pluripotent stem cells are obtained. And new information is provided for screening of novel markers for antenatal diagnosis of Down's syndrome and establishment of a detection method.
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