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Friedreichâ??s Ataxia Induced Pluripotent Stem Cells Recapitulate GAAâ?¢TTC Triplet-Repeat Instability

ChEBI2010-07-30 更新2026-07-21 收录

神经疾病模型

三核苷酸重复不稳定性

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-22651 数据链接链接失效反馈

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资源简介：

Friedreichâ??s Ataxia Induced Pluripotent Stem Cells Recapitulate GAAâ?¢TTC Triplet-Repeat Instability

应用场景：

创建时间：

2010-07-30

神经疾病模型

RNA-seq转录组学

RNA-sequencing analysis reveals increased steady-state levels of key neuronal genes in Rrp40 mutant flies Overall design: Examination of Rrp40 missense mutantions modeled in Drosophila

NIAID Data Ecosystem110

Additional file 1 of Brain organoid: a 3D technology for investigating cellular composition and interactions in human neurological development and disease models in vitro

脑类器官技术

神经疾病模型

Additional file 1.

Figshare2024-02-23 更新60

Human iPSC-derived neuronal cells from CTBP1-mutated patients reveal altered expression of neurodevelopmental gene networks

神经疾病模型

干细胞转录组学

A recurrent de novo mutation in the transcriptional corepressor CTBP1 is associated with neurodevelopmental disabilities in children (Beck et al., 2016; Beck et al., 2019; Sommerville et al., 2017).

NIAID Data Ecosystem40

Table_1_Cystatin B Involvement in Synapse Physiology of Rodent Brains and Human Cerebral Organoids.xlsx

突触生理学

神经疾病模型

Cystatin B (CSTB) is a ubiquitous protein belonging to a superfamily of protease inhibitors. CSTB may play a critical role in brain physiology because its mutations cause progressive myoclonic epileps

NIAID Data Ecosystem80

Impaired T3 transport and action underlies the pathophisiology of the Allan-Herdon-Dudley syndrome

神经疾病模型

甲状腺激素转运

Patients with mutations in the thyroid hormone (TH) cell transporter MCT8 gene develop severe neuropsychomotor retardation known as the Allan-Herndon-Dudley syndrome (AHDS). It is assumed that this is

NIAID Data Ecosystem50

Friedreichâ??s Ataxia Induced Pluripotent Stem Cells Recapitulate GAAâ?¢TTC Triplet-Repeat Instability

资源简介：

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