Project description:CytoScan 750K array was performed for the detection of CNV associated with the patient's phenotype CytoScan 750K array was performed according to the manufacturer's directions on DNA extracted from peripheral blood sample.

2021-08-07 | GSE181612 | GEO

Affymetrix CytoScan HD array data for patient with Intellectual Disabilities

Project description:Standard cytogenetic GTG-banding analysis (550 bands) revealed an interstitial deletion on 15q21q22 chromosomal region. Refinement of the 15q21.2 deletion intervals was conducted using aCGH (Cytoscan HD, Affymetrix) on DNA samples from the patient. This assay revealed the presence of submicroscopic alterations on chromosomes 1, 9 and 15. The result was arr[hg19] 9p24.1(6,619,823-6,749,335)x3, 1q44(248,688,586-248,795,277)x1, 15q21.2q22.2(50,848,301-61,298,006)x1.

2014-06-21 | GSE58694 | GEO

Affymetrix CytoScan HD array data for patient with Intellectual Disabilities

2014-06-21 | E-GEOD-58694 | biostudies-arrayexpress

Affymetrix CytoScan 750K array data for a parthenogenetic SMA human embryonic stem cell line

Project description:A diploid 46(XX) human embryonic stem cell (HESC) line affected by Spinal muscular atrophy type 1 (SMA) due to homozygosity for a common deletion in the SMN1 gene was derived. By characterizing the methylation status of three different imprinted loci (MEST, SNRPN and H19) and carrying out genome-wide SNP analysis, we provide evidence that this cell line was established from the activation of a mutant haploid oocyte through parthenogenesis, resulting in homozygote diploidization of the entire genome. Affymetrix CytoScan 750K array analysis was performed according to the manufacturer's directions on DNA extracted from tissue culture. Copy number and LOH analysis of the Affymetrix CytoScan 750K array was performed for the SMA HESC line.

2015-09-01 | E-GEOD-72284 | biostudies-arrayexpress

Affymetrix CytoScan HD array data of iPSCs and iPSC-derived-NSPCs

Project description:Cytoscan HD analysis on DNA samples from iPSCs, iPS-derived NSPCs

2016-09-14 | GSE77995 | GEO

Affymetrix CytoScan HD data on neuroblastoma cell lines

Project description:Affymetrix CytoScan HD data on neuroblastoma cell lines

| PRJNA862167 | ENA

CytoScan HD array for multiple myeloma samples

Project description:CytoScan HD array for multiple myeloma samples

| PRJNA691214 | ENA