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NHGRI Sample Repository for Human Genetic Research

DNA samples and cell lines from fifteen populations, including the samples used for the International HapMap Project, the HapMap 3 Project and the 1000 Genomes Project (except for the CEPH samples). All of the samples were contributed with consent to broad data release and to their use in many future studies, including for extensive genotyping and sequencing, gene expression and proteomics studies, and all other types of genetic variation research. NHGRI led the contribution of the NIH to the International HapMap Project, which developed a haplotype map of the human genome. This haplotype map, called the HapMap is a publicly available tool that allows researchers to find genes and genetic variations that affect health and disease. The samples from four populations used to develop the HapMap were initially housed in the Human Genetic Cell Repository of the National Institute of General Medical Sciences (NIGMS). Except for the Utah CEPH samples that were in the NIGMS Repository before the initiation of the HapMap Project and remain there, the NHGRI Repository now houses all of the HapMap samples. The NHGRI repository also houses the extended set of HapMap samples, which includes additional samples from the HapMap populations and samples from seven additional populations. All of the samples were collected with extensive community engagement, including discussions with members of the donor communities about the ethical and social implications of human genetic variation research. These samples were studied as part of the HapMap 3 Project. The NHGRI repository also houses the samples for the International 1000 Genomes Project. This Project is lightly sequencing genome-wide 2500 samples from 27 populations. This project aims to provide a detailed map of human genetic variation, including common and rare SNPs and structural variants. This map will allow more precise localization of genomic regions that contribute to health and disease. The 1000 Genomes Project includes many of the samples from the HapMap and extended set of HapMap samples, as well as samples being collected from additional populations. Currently, samples from five additional populations are available; the others will become available during 2011 and 2012. No identifying or phenotypic information is available for the samples. Donors gave broad consent for use of the samples, including for genotyping, sequencing, and cellular phenotype studies. Samples collected from other populations for the study of human genetic variation may be added to the collection in the future. The NHGRI Repository distributes high quality lymphoblastoid cell lines and DNA from the samples to researchers. DNA is provided in plates or panels of 70 to 100 samples or as individual samples. Cell cultures and DNA samples are distributed only to qualified professional persons who are associated with recognized research, medical, educational, or industrial organizations engaged in health-related research or health delivery.

URL: http://ccr.coriell.org/Sections/Collections/NHGRI/?SsId=11

Resource ID: nlx_143818     Resource Type: Resource     Version: Latest Version


genome, frozen, gene, dna, cell line, lymphoblastoid cell line, genetic variation

Funding Information


Additional Resource Types

Biomaterial Supply Resource, Cell Repository

Used By

1000 Genomes: A Deep Catalog of Human Genetic Variation

Related Application




Related To

International HapMap Project, HapMap 3 and ENCODE 3


NHGRI Repository

Parent Organization

Related Disease





Sample Repository for Human Genetic Research


Sample type: DNA, Cell line, Lymphoblastoid cell line

Listed By

One Mind Biospecimen Bank Listing, Biobank


Qualified professional



Original Submitter


Version Status


Submitted On

12:00am December 3, 2011

Originated From


Changes from Previous Version

    No Changes

    Version 4

    Created 1 month ago by Christie Wang

    Version 3

    Created 2 months ago by Christie Wang

    Version 2

    Created 2 months ago by Christie Wang

    Version 1

    Created 4 years ago by Anonymous