ID
45265
Description
Principal Investigator: Judith H. Greenberg, PhD, National Institute of General Medical Sciences, National Institutes of Health, Bethesda, MD, USA MeSH: Normalcy https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000268 The Human Genetic Cell Repository (HGCR) is sponsored by the National Institute of General Medical Sciences (NIGMS) 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 (CEPH), 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).
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Versions (2)
- 6/13/22 6/13/22 - Dr. Christian Niklas
- 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder
Judith H. Greenberg, PhD, National Institute of General Medical Sciences, National Institutes of Health, Bethesda, MD, USA
Uploaded on
October 12, 2022
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000268 Genotyping NIGMS CEPH Samples from the United States, Venezuela, and France
Subject ID, consent group, and subject source of participants were born in the United States, France or Venezuela and originate from the CEPH [the Centre d'Etude du Polymorphisme Humain] collection.
- StudyEvent: SEV1
- Subject ID, consent group, and subject source of participants were born in the United States, France or Venezuela and originate from the CEPH [the Centre d'Etude du Polymorphisme Humain] collection.
- Family ID, subject ID, sex, and father and mother IDs of participants were born in the United States, France or Venezuela and originate from the CEPH [the Centre d'Etude du Polymorphisme Humain] collection.
- Sample ID, sample source, and subject ID of participants were born in the United States, France or Venezuela and originate from the CEPH [the Centre d'Etude du Polymorphisme Humain] collection.
- Sample ID, sex, and age of subjects were born in the United States, France or Venezuela and originate from the CEPH [the Centre d'Etude du Polymorphisme Humain] collection.
Similar models
Subject ID, consent group, and subject source of participants were born in the United States, France or Venezuela and originate from the CEPH [the Centre d'Etude du Polymorphisme Humain] collection.
- StudyEvent: SEV1
- Subject ID, consent group, and subject source of participants were born in the United States, France or Venezuela and originate from the CEPH [the Centre d'Etude du Polymorphisme Humain] collection.
- Family ID, subject ID, sex, and father and mother IDs of participants were born in the United States, France or Venezuela and originate from the CEPH [the Centre d'Etude du Polymorphisme Humain] collection.
- Sample ID, sample source, and subject ID of participants were born in the United States, France or Venezuela and originate from the CEPH [the Centre d'Etude du Polymorphisme Humain] collection.
- Sample ID, sex, and age of subjects were born in the United States, France or Venezuela and originate from the CEPH [the Centre d'Etude du Polymorphisme Humain] collection.
C1257890 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,2])