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Data · study · 2026

RNA expression data from fibroblasts, iPSCs, iNPCs and iDopaminergicNeurons (Williams Beuren Syndrome, 7q11.23 microduplicatino Syndrome, controls)

Listed in NCBI GEO

7q11.23 microduplication syndrome (DUP7) and Williams-Beuren syndrome (WBS) are rare multisystemic disorders with somehow opposed neurobehavioural trajectories caused by 1.55-1.83 Mb heterozygous microduplication or microdeletion of ~30 contiguous genes at 7q11.23, respectively.

Description

Cellular reprogramming is a good approach to overcome the experimental limitations to study neurodevelopmental disorders in humans. The purpose of this project is to evaluate the transcriptomic consequences of 7q11.23 patient-derived iPSC lines and neuronal derivatives.

We differentiated patient-specific iPSCs generated from fibroblasts from four DUP7 patients, four WBS patients and two controls, to neural progenitor cells (iNPCs) and to dopaminergic neurons (iNeus). We assessed genome-wide differential expression using expression microarrays in all cell types

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Stated by source
Expression profiling by array · Homo sapiens
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Life Sciences
Provenance · 1 source records, 7 field assertions
SourceKeyLast seenRaw
NCBI GEOGSE19999514 d agoJSON v1
FieldAssertionExtractorEvidence
access_levelsource · NCBI GEOconnector:ncbi_geo@1.0.0
concepts[field].local:field:life-sciencesmapping · NCBI GEOconnector:ncbi_geo@1.0.0
concepts[method].geo_series_type:expression-profiling-by-arraysource · NCBI GEOconnector:ncbi_geo@1.0.0/gdstype
concepts[organism].NCBITaxon:9606source · NCBI GEOconnector:ncbi_geo@1.0.0/taxon
descriptionsource · NCBI GEOconnector:ncbi_geo@1.0.0/summary
publication_datesource · NCBI GEOconnector:ncbi_geo@1.0.0
titlesource · NCBI GEOconnector:ncbi_geo@1.0.0/title