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Series GSE26860 Query DataSets for GSE26860
Status Public on Jan 26, 2011
Title ENPP1 deletion and infantile arterial calcification
Organism Homo sapiens
Experiment type Genome variation profiling by SNP array
SNP genotyping by SNP array
Summary The goal of this study was to identify new mutations in the ENPP1 gene that produce infantile arterial calcification and fetal demise. A stillborn (proband) was diagnosed with infantile arterial calcification. Mutations in the ENPP1 gene account for ~80% of the cases of infantile arterial calcification through loss of function in both alleles (recessive inheritance).
Overall design The proband and parents were screened for mutations by sequencing. The male parent was analyzed by microarray to verify and map a deletion suspected by sequence data analysis. The sample was called with a Europeans reference. ENPP1 position is located at chr6:132,170,849-132,257,988 (hg18).

The matrix data provided contains only the deleted region and flanking probes.
Contributor(s) Watkins S
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Submission date Jan 25, 2011
Last update date Nov 27, 2018
Contact name Scott Watkins
Phone 801-585-3385
Fax 801-585-9148
Organization name University of Utah
Department Human Genetics
Street address 15 N 2030 E Rm2100
City Salt Lake City
State/province UT
ZIP/Postal code 84112
Country USA
Platforms (1)
GPL6801 [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Samples (1)
GSM661300 Male_Parent_86828
BioProject PRJNA135987

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE26860_RAW.tar 61.2 Mb (http)(custom) TAR (of CEL, CNCHP)
GSE26860_annotation_matrix.txt.gz 188.0 Kb (ftp)(http) TXT
Processed data included within Sample table
Processed data are available on Series record

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