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Items: 1 to 20 of 3205

1.

Preclinical quality, safety and efficacy of a human embryonic stem cell-derived product for treatment of people with moderate Parkinson’s Disease (STEM-PD)

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array; Other
Platforms:
GPL15520 GPL21697 GPL13829
9 Samples
Download data: IDAT, VCF
Series
Accession:
GSE229769
ID:
200229769
2.

Preclinical quality, safety and efficacy of a human embryonic stem cell-derived product for treatment of people with moderate Parkinson’s Disease (STEM-PD) III

(Submitter supplied) Cell replacement therapies for Parkinson’s Disease (PD) based on transplantation of dopaminergic neurons generated from pluripotent stem cell sources are now entering clinical trials.  Here, we present the quality, safety and efficacy data supporting a first-in-human clinical trial in PD using an embryonic stem cell product STEM-PD, as well as the design of the trial itself. The cryopreserved STEM-PD product was manufactured under Good Manufacturing Practice (GMP) and fully quality-tested in vitro for regulatory compliance. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL13829
6 Samples
Download data: CSV, IDAT
Series
Accession:
GSE229768
ID:
200229768
3.

Primary mediastinal large B-cell lymphoma is hallmarked by large-scale copy-neutral loss of heterozygosity

(Submitter supplied) Development of primary mediastinal B-cell lymphoma (PMBL) is driven by cumulative genomic aberrations. It is unknown whether copy-neutral loss of heterozygosity (CN-LOH) contributes to the pathogenesis of this tumor. To get insight into the CN-LOH landscape of PMBL, we performed Single Nucleotide Polymorphism array (SNPa) analysis of two PMBL-derived cell lines and 33 primary tumors. The study uncovered large-scale CN-LOH lesions in both cell lines and 90.9% (30/33) of primary tumors. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL13829
35 Samples
Download data: IDAT, TXT
Series
Accession:
GSE184212
ID:
200184212
4.

Detection of CNVs in patients with syndromic intellectual disability

(Submitter supplied) Illumina whole genome SNP (single nucleotide polymorphism) microarray analysis was carried out on the patient in order to determine copy number variations and to assess their disease etiopathogenesis.
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL13829
1 Sample
Download data: IDAT, TXT
Series
Accession:
GSE147730
ID:
200147730
5.

Genome-wide single nucleotide polymorphism array analysis unveils the origin of heterozygous androgenetic complete moles

(Submitter supplied) Heterozygous CHMs have been believed as synonymous with dispermic moles (two sperm origin). The possibility of diploid sperm origin has not been considered. We assessed whether heterozygous CHMs would be of dispermic or diploid sperm origin. In all the cases, centromeric zygosity was random, i.e., mixed status. Theoretically, if the heterozygous CHMs were of diploid sperm origin, the centromeric status will be all homozygous or all heterozygous. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array
Platform:
GPL13829
13 Samples
Download data: TXT
Series
Accession:
GSE117672
ID:
200117672
6.

Genome-Wide Copy Number Variation Analysis of Chinese Patients with Intellectual Disability

(Submitter supplied) Objective: Intellectual disability (ID) is often sporadic, and its complex etiology can make clinical diagnosis difficult. The aims of this study were to detect genomic copy number variations (CNVs) in Chinese patients with ID, and to analyze the correlation between pathogenic CNVs and clinical phenotypes. Methods: After excluding cases of ID caused by chromosomal aneuploidy, metabolic dysfunction, or environmental factors, we enrolled 60 patients with moderate to severe ID. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL13829
31 Samples
Download data: TXT
Series
Accession:
GSE83414
ID:
200083414
7.

Definitive classification of ovarian mature cystic teratomas origin using B allele frequency plots with SNP array analysis

(Submitter supplied) Ovarian mature cystic teratomas (MCTs) originate from postmeiotic germ cells, and some are thought to result from the fusion of two ova. The aim of this study was to determine whether this mechanism is in fact involved in MCT development. MCTs can be classified by the zygosity of the centromere and distal chromosome regions. We evaluated the zygosity of all chromosomes from 38 MCT specimens using B allele frequency (BAF) plots of single nucleotide polymorphism-array data. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array
Platforms:
GPL13829 GPL24395
38 Samples
Download data: TXT
Series
Accession:
GSE85424
ID:
200085424
8.

Tetra-Amelia with lung aplasia phenotype

(Submitter supplied) Clinical findings of this case has been reported previously by Sergio de Sousa (American Journal of Medical Genetics Part A 146A:2799–2803 (2008)). RSPO2 gene has been identified by our group (İstanbul, Turkey, 2014) as responsible gene for Tetra-Amelia with lung aplasia phenotype. To find causative pathogenic variations, sanger sequencing of fetal DNA was performed and did not reveal any variations. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array
Platform:
GPL13829
1 Sample
Download data: IDAT, TXT
Series
Accession:
GSE111781
ID:
200111781
9.

Metastasis in triple-negative breast cancer

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing; Genome variation profiling by SNP array
Platforms:
GPL18460 GPL13829
24 Samples
Download data: IDAT
Series
Accession:
GSE111706
ID:
200111706
10.

Functional and genomic characterization of a xenograft model system for the study of metastasis in triple-negative breast cancer

(Submitter supplied) To define the molecular regulators of metastasis of triple-negative breast cancer, we conducted a rigorous characterization of four populations of MDA-MB-231 human triple-negative breast cancer cells that display a range of intrinsic spontaneous metastatic capacities in immuno-deficient mice, from non-metastatic to highly metastatic to lung, liver, spleen and spine. PAT-Seq gene expression profiling of primary tumor cells identified the fibroblast growth factor homologous factor, FGF13, as a candidate metastatic virulence gene highly upregulated in aggressively metastatic MDA-MB-231HM tumors.
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array
Platform:
GPL13829
4 Samples
Download data: IDAT, TXT
Series
Accession:
GSE111705
ID:
200111705
11.

SNP Genotype and Gene Expression data from induced Pluripotent Stem cells from Parkinson's Disease patients harboring mutations in the GBA1 gene, and from healthy control donors

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Expression profiling by array; SNP genotyping by SNP array; Genome variation profiling by SNP array
Platforms:
GPL13829 GPL10558 GPL22678
18 Samples
Download data
Series
Accession:
GSE99473
ID:
200099473
12.

SNP genotype data from induced Pluripotent Stem cells from Parkinson's Disease patients harboring mutations in the GBA1 gene, and from healthy control donors

(Submitter supplied) We have generated human induced Pluripotent Stem cells (hiPSc) using Retroviral and Sendai virus-mediated delivery of reprogramming factors. hiPSc lines have been screened using SNP array to assess chromosomal stability (alongside the fibroblast lines from which they were derived), and validation of the pluripotency of the hiPSc lines is provided by Pluritest assessment of transcriptome datasets, prior to differentiation and downstream assays. more...
Organism:
Homo sapiens
Type:
SNP genotyping by SNP array; Genome variation profiling by SNP array
Platforms:
GPL13829 GPL22678
13 Samples
Download data: TXT
Series
Accession:
GSE99471
ID:
200099471
13.

Gene Expression and SNP genotype data from induced Pluripotent Stem cells from healthy control donors

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Expression profiling by array; SNP genotyping by SNP array
Platforms:
GPL10558 GPL21168 GPL13829
6 Samples
Download data
Series
Accession:
GSE99125
ID:
200099125
14.

SNP genotype data from induced Pluripotent Stem cells from healthy control donors

(Submitter supplied) We have generated human induced Pluripotent Stem cells (hiPSc) using Retroviral or Sendai virus-mediated delivery of reprogramming factors. hiPSc lines have been screened using SNP array to assess chromosomal stability (alongside the fibroblast lines from which they derived), and validation of the pluripotency of the hiPSc lines is provided by Pluritest assessment of transcriptome datasets, prior to differentiation and downstream assays. more...
Organism:
Homo sapiens
Type:
SNP genotyping by SNP array
Platforms:
GPL21168 GPL13829
3 Samples
Download data: TXT
Series
Accession:
GSE99124
ID:
200099124
15.

Genotype and gene expression data from induced Pluripotent Stem cells from OPA1 Haploinsufficiency patients

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Expression profiling by array; SNP genotyping by SNP array; Genome variation profiling by SNP array
Platforms:
GPL10558 GPL13829
12 Samples
Download data
Series
Accession:
GSE94433
ID:
200094433
16.

Genotype data from induced Pluripotent Stem cells from OPA1 Haploinsufficiency patients

(Submitter supplied) We have generated human induced Pluripotent Stem cells (hiPSc) from two individuals with OPA1 haploinsufficiency, and one control donor, using Sendai virus-mediated delivery of reprogramming factors. hiPSc lines have been screened using SNP array to assess chromosomal stability (alongside the fibroblast lines from which they derived), and validation of the pluripotency of the hiPSc lines is provided by Pluritest assessment of transcriptome datasets, prior to differentiation to dopaminergic neuronal clutures and downstream functional assays. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL13829
8 Samples
Download data: TXT
Series
Accession:
GSE94432
ID:
200094432
17.

Gene expression data from induced Pluripotent Stem cells from Parkinson's Disease patients harbouring amplification of, or mutations in the SNCA gene, and from healthy control donors

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Expression profiling by array; SNP genotyping by SNP array
4 related Platforms
32 Samples
Download data
Series
Accession:
GSE89886
ID:
200089886
18.

Gene expression data from induced Pluripotent Stem cells from Parkinson's Disease patients harbouring amplification of, or mutations in the SNCA gene, and from healthy control donors [genotype]

(Submitter supplied) We have generated human induced Pluripotent Stem cells (hiPSc) using Sendai virus-mediated delivery of reprogramming factors. hiPSc lines have been screened using SNP array to assess chromosomal stability (alongside the fibroblast lines from which they derived), and validation of the pluripotency of the hiPSc lines is provided by Pluritest assessment of transcriptome datasets, prior to differentiation and downstream assays. more...
Organism:
Homo sapiens
Type:
SNP genotyping by SNP array
Platforms:
GPL13829 GPL21168 GPL22678
19 Samples
Download data: TXT
Series
Accession:
GSE89878
ID:
200089878
19.

SNP array of AML and MDS specimens with dic(20;22)

(Submitter supplied) This study describes a recurrent dicentric chromosome formed by telomere fusion between chromosome 20 and chromosome 22 in myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML). This is the first description of a recurrent telomere fusion event in myeloid malignancy. The derivative chromosome is further characterised by the presence of nucleolus organiser region material from the chromosome 22 short arm, loss of the putative tumour suppressor gene at 20q12 and secondary rearrangements including gain or amplification of 20q material adjacent to the deletion encompassing 20q12. more...
Organism:
Homo sapiens
Type:
SNP genotyping by SNP array; Genome variation profiling by SNP array
Platform:
GPL13829
3 Samples
Download data: TXT
Series
Accession:
GSE64050
ID:
200064050
20.

CNA profiling using high-density DNA methylation arrays (SNP array)

(Submitter supplied) The integration of genomic and epigenomic data is becoming increasingly popular as we try to gain better understanding of the complex mechanisms driving the development and progression of cancer. However, this results in increased cost and sample depletion, the latter being particularly important when considering intra-tumour heterogeneity. We therefore sought to investigate the possible utility of high-density DNA methylation arrays to assess both aberrant methylation as well as changes in gene copy number. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array; SNP genotyping by SNP array
Platform:
GPL13829
11 Samples
Download data: TXT
Series
Accession:
GSE48941
ID:
200048941
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