GSM1949216[Accession] - GEO DataSets

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Items: 4

Select item 2000753581.

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:: Homo sapiens

Type:: SNP genotyping by SNP array; Genome variation profiling by SNP array

Platform:: GPL6801
36 Samples

Download data: CEL, CHP

Series

Accession:: GSE75358

ID:: 200075358

Select item 2000753142.

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency (Family A)

(Submitter supplied) Affymetrix 6.0 SNP data for genome-wide linkage scans of a consanguineous Kuwaiti family with a combined immunodeficiency Peripheral blood or saliva were used for patients who had no history of hematopoietic stem cell transplant (HSCT). Fibroblasts cell lines were used as a source of DNA for individuals who received HSCT.

Organism:: Homo sapiens

Type:: SNP genotyping by SNP array; Genome variation profiling by SNP array

Platform:: GPL6801
32 Samples

Download data: CEL, CHP, TXT

Series

Accession:: GSE75314

ID:: 200075314

Select item 1000068013.

[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array

(Submitter supplied) Affymetrix submissions are typically submitted to GEO using the GEOarchive method described at http://www.ncbi.nlm.nih.gov/projects/geo/info/geo_affy.html June 03, 2009: annotation table updated with netaffx build 28 (ucsc=hg18; ncbi=NCBI36) August 01, 2012: annotation table updated with netaffx build 32 (ucsc=hg19; ncbi=GRCh37) Protocol: see manufacturer's web site The new Affymetrix® Genome-Wide Human SNP Array 6.0 features 1.8 million genetic markers, including more than 906,600 single nucleotide polymorphisms (SNPs) and more than 946,000 probes for the detection of copy number variation. more...