Cell Line study with SNP Genotypes (Array) data on dbGaP (181 participants)

phs000268 — Genotyping NIGMS CEPH Samples from the United States, Venezuela, and    France

<p>The Human Genetic Cell Repository (HGCR) is sponsored by the   <a href="http://www.nigms.nih.gov/">National Institute of General Medical Sciences (NIGMS)</a> with   the mission of supplying scientists with the materials for accelerating disease gene discovery and functional studies.   The resources available include highly-characterized, contaminant-free fibroblast cell lines, transformed lymphoblastoid   cell lines (LCLs), and DNA samples derived from these cultures. While the Repository has a major emphasis on inherited   diseases, it also contains large collections of cell lines gathered from populations around the world that are intended   for use in facilitating the understanding of human variation. Prominent among these resources is the CEPH Reference   Family collection contributed by the Centre d'Etude du Polymorphisme Humain (<a href="http://landru.cephb.fr/">CEPH</a>),   Foundation Jean Dausset, Paris, France. The CEPH collection includes families collected by R. White (Utah),   J. Dausset (French), J. Gusella (Venezuelan), and J. Egeland (Amish). There are a total of 809 individuals   accounting for 832 pedigree positions in the reference families. Family relationships for the 61 reference   families were verified at Coriell and approved by CEPH. In an effort to enhance the value of this cell culture   resource available from the Repository, the Coriell Genotyping and Microarray Center used the Affymetrix   Genome-Wide Human SNP Array 6.0 platform to genotype 181 samples from the NIGMS HGCR CEPH collection. Included   are thirteen families from the United States (Amish Pedigree 884 and Utah   Pedigrees 1331, 1356, 1400, 1416, 1424, 1427, 1477, and 1582), France (Pedigrees 35 and 66),   and Venezuela (Pedigrees 102 and 104). Twelve of the families consist of 3 generations and one   family consists of 2 generations. Pedigree charts and sample descriptions are available on the   Repository catalog website (see below).</p>