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E-MTAB-16548 RNA-seq of coding RNA Homo sapiens, Homo sapiens

RNA-seq of hiPSC-ECs from HNF1A-MODY patient and corrected isogenic control lines

·发布 2026年2月22日
12
样本数
12
实验数
1
相关文献
实验描述

The experiment aims to find differences in gene expression in endothelial cells due to a heterozygous mutation in HNF1A, which cause maturity-onset diabetes of the young (MODY). For that purpose human induced pluripotent stem cell (hiPSCs) line from an HNF1A-MODY patient was repaired using CRISPR/Cas9, thus generating two isogenic (patient-specific) control lines. The hiPSCs from patient and the respective control lines were differentiated toward endothelial cells, and the gene expression in these cells was compared.

参考文献
Integrated transcriptome and proteome analyses unveil cytoskeletal alterations in an endothelial model of monogenic diabetes
Skoczek, D., Kloska, D., Targosz-Korecka, M., Szade, K., Biela, A., Hohendorff, J., Babincak, M., Kopacz, A., Malecki, M. T., Stepniewski, J., & Kachamakova-Trojanowska, N
样本属性
Organism
Homo sapiens
Developmental stage
adult
Organism part
vasculature
Cell type
endothelial cell
Cell line
iPSC derived cell line
Disease
maturity-onset diabetes of the young
Genotype
wild type genotype, heterozygous mutation in HNF1A
Genetic modification
HNF1A wt, HNF1A mut
实验信息
登记号
E-MTAB-16548
实验类型
RNA-seq of coding RNA
物种
Homo sapiens, Homo sapiens
发布日期
2026年2月22日
提交者
Neli Kachamakova-Trojanowska
分析服务
分析服务

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