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Series GSE75314 Query DataSets for GSE75314
Status Public on Nov 25, 2015
Title A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency (Family A)
Organism Homo sapiens
Experiment type SNP genotyping by SNP array
Genome variation profiling by SNP array
Summary 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.
Overall design Genomic DNA from 32 subjects (5 affected and 27 unaffected) from Family A was genotyped at 909,622 single nucleotide polymorphisms (SNPs) on the Genome-Wide Human SNP 6.0 Array (Affymetrix).
Contributor(s) Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu Z, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS
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Submission date Nov 23, 2015
Last update date Nov 27, 2018
Contact name Raif S. Geha
Organization name Boston Children's Hospital
Department Division of Immunology
Lab Geha Laboratory
Street address 1 Blackfan Circle, Karp 10
City Boston
State/province MA
ZIP/Postal code 02115
Country USA
Platforms (1)
GPL6801 [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Samples (32)
GSM1949206 102A _Blood_Obligate carrier
GSM1949207 102B _Blood_Healthy
GSM1949208 102C _Blood_Healthy
This SubSeries is part of SuperSeries:
GSE75358 A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency
BioProject PRJNA303985

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
GSE75314_FamilyA_32samples_BSv2-0.02_all-909622-unfiltered_gtypes-conf_111015.txt.gz 84.6 Mb (ftp)(http) TXT
GSE75314_FamilyA_32samples_BSv2-0.02_linkage-145751-filtered_gtypes-conf_111015.txt.gz 13.4 Mb (ftp)(http) TXT
GSE75314_RAW.tar 1.3 Gb (http)(custom) TAR (of CEL, CHP)
Processed data included within Sample table
Processed data are available on Series record
Processed data provided as supplementary file

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