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Series GSE75349 Query DataSets for GSE75349
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
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.
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).
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 24, 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 (4)
GSM1953821 KWA04_Fibroblast cell_Affected
GSM1953822 RALAJ_Peripheral blood_Affected
GSM1953823 UNK-344-USA_Peripheral blood_Affected
This SubSeries is part of SuperSeries:
GSE75358 A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency
BioProject PRJNA304000

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
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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