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| 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
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| 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.
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| 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).
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| 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 |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
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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
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| Department |
Division of Immunology
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| Lab |
Geha Laboratory
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| Street address |
1 Blackfan Circle, Karp 10
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| City |
Boston |
| State/province |
MA |
| ZIP/Postal code |
02115 |
| Country |
USA |
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| Platforms (1) |
| GPL6801 |
[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array |
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| Samples (32)
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| This SubSeries is part of SuperSeries: |
| GSE75358 |
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency |
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| Relations |
| BioProject |
PRJNA303985 |
| 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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