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E-GEOD-75349 - A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency (Family B)

Status
Released on 25 November 2015, last updated on 27 November 2015
Organism
Homo sapiens
Samples (4)
Array (1)
Protocols (7)
Description
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. 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).
Experiment type
genotyping by array 
Contacts
Raif S. Geha <geo@ncbi.nlm.nih.gov>, Anant Vatsayan, Basel K Al-Ramadi, Colin Sieff, David Fraulino, E G Davies, Eli Silver, Fedik Rahimov, Haifa H Jabara, Halli Benson, Hasan Al-Dhekri, Janet Chou, Louis M Kunkel, Luigi D Notarangelo, Mark D Fleming, Martha Sola-Visner, Michel J Massaad, Mohammad Abu-Shukair, Nancy C Andrews, Narayanaswamy Ramesh, Raif S Geha, Rand Arnaout, Salem H Alshemmari, Sanjay Ahuja, Steven E Boyden, Toshiro K Ohsumi, Waleed Al-Herz, Wayne Bainter, Zhi-Jian Liu
MIAME
PlatformsProtocolsVariablesProcessedRaw
Files
Investigation descriptionE-GEOD-75349.idf.txt
Sample and data relationshipE-GEOD-75349.sdrf.txt
Raw data (1)E-GEOD-75349.raw.1.zip
Processed data (1)E-GEOD-75349.processed.1.zip
Additional data (1)E-GEOD-75349.additional.1.zip
Array designA-AFFY-142.adf.txt
Links