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| Status |
Public on Nov 25, 2015 |
| Title |
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency (Family B) |
| Organism |
Homo sapiens |
| Experiment type |
SNP genotyping by SNP array
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| Summary |
Affymetrix 6.0 SNP data for haplotype comparison of patients from two different families sharing the same homozygous mutation in TFRC, to determine if the families were related to each other
Peripheral blood was used for patients who had no history of hematopoietic stem cell transplant (HSCT). Fibroblasts cell lines were used as a source of DNA for the individual who received HSCT.
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| Overall design |
Genomic DNA from 3 subjects (2 from Family A, 1 from Family B in duplicate) 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 24, 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 (4)
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| GSM1953824 |
UNK-344-USAB2_Peripheral blood_Affected_rep2 |
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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 |
PRJNA304000 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE75349_FamilyA-B_3samples_BSv2-0.1_all-909622-unfiltered_gtypes_111015.txt.gz |
3.2 Mb |
(ftp)(http) |
TXT |
| GSE75349_FamilyA-B_3samples_BSv2-0.1_haplo-678442-filtered_gtypes_111015.txt.gz |
3.4 Mb |
(ftp)(http) |
TXT |
| GSE75349_RAW.tar |
119.4 Mb |
(http)(custom) |
TAR (of CEL) |
| Processed data included within Sample table |
| Processed data are available on Series record |
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