Characterization of missense mutations in the tetr... (ID 434111) - BioProject

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Accession: PRJNA434111 ID: 434111

Characterization of missense mutations in the tetratricopeptide region of O-GlcNAc transferase found in patients with X-linked intellectual disability (human)

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95218 additional projects are related by organism.

Dfferential transcriptomics analysis of RUES-1 human embryonic stem cells edited using Crispr/Cas9 to contain four mutations in OGT found in certain patients with X-linked intellectual disability reveals changes in the gene expression profile associated with ectoderm and mesoderm development in all four mutant cell lines compared to the wild type control. More...

Accession	PRJNA434111; GEO: GSE110616
Data Type	Transcriptome or Gene expression
Scope	Multiisolate
Organism	Homo sapiens[Taxonomy ID: 9606] Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo; Homo sapiens
Submission	Registration date: 14-Feb-2018 Complex Carbohydrate Research Center, University of Georgia
Relevance	Medical

Project Data:

Resource Name	Number of Links
Sequence data
SRA Experiments	5
Other datasets
BioSample	5
GEO DataSets	1

GEO Data Details

Parameter	Value
Data volume, Supplementary Mbytes	3

SRA Data Details

Parameter	Value
Data volume, Gbases	30
Data volume, Mbytes	11326

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Characterization of missense mutations in the tetratricopeptide region of O-GlcNAc transferase found in patients with X-linked intellectual disability (human)

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