Please note that we have stopped the regular imports of Gene Expression Omnibus (GEO) data into ArrayExpress. This may not be the latest version of this experiment.
E-GEOD-75349 - A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency (Family B)
Released on 25 November 2015, last updated on 27 November 2015
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).
genotyping by array
Raif S. Geha <firstname.lastname@example.org>, 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