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HNF1A allelic series in derived human beta-like cells from hESCs

ChEBI2019-07-23 更新2026-07-12 收录

单基因糖尿病

干细胞分化功能验证

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-MTAB-8120 数据链接链接失效反馈

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资源简介：

HNF1A allelic series in derived human beta-like cells from hESCs

应用场景：

创建时间：

2019-07-23

单基因糖尿病

DNAJC3突变表型

IntroductionDNAJC3, abundant in the pancreatic cells, attenuates endoplasmic reticulum stress. Homozygous DNAJC3 mutations have been reported to cause non-immune juvenile-onset diabetes, neurodegenera

NIAID Data Ecosystem50

whole exon sequencing for monogenic diabetes

单基因糖尿病

外显子测序

Aim to detect monogenic diabetes from patients who were onset diabetes before 25-years old, we start the monogenic diabetes registry program in China.

NIAID Data Ecosystem30

ena-DATASET-SC-03-08-2017-09:40:32:528-1561 - samples

单基因糖尿病

RNA-seq转录组学

HipSci - Monogenic Diabetes - RNA Sequencing - July 2017EGA dataset EGAD00001003530

NIAID Data Ecosystem20

Supplementary data for "Genetic and Clinical Characteristics of Monogenic Diabetes in Japan: A Nationwide Study by the Japan Diabetes Society"

单基因糖尿病

临床遗传学

This dataset contains the supplementary materials for the article titled “ Genetic and Clinical Characteristics of Monogenic Diabetes in Japan: A Nationwide Study by the Japan Diabetes Society,<

Figshare2025-09-06 更新40

Results fasta files for "A systematic mapping of the genomic and proteomic variation associated with monogenic diabetes"

单基因糖尿病

组蛋白变异

Fasta files contain protein sequences for the project "A systematic mapping of the genomic and proteomic variation associated with monogenic diabetes"

Figshare2022-11-01 更新20

HNF1A allelic series in derived human beta-like cells from hESCs

资源简介：

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