Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA75675 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:NIGMS Human Genetic Cell Repository: Chromosomal Aberration Genotyping Panel
| PRJNA75673 | ENA
Project description:NIGMS Human Genetic Cell Repository: Ethnic Panels
| PRJNA75411 | ENA
Project description:NIGMS Human Genetic Cell Repository: CEPH Family Panels
| PRJNA75671 | ENA
Project description:NIGMS Human Genetic Cell Repository: Ethnic Panels
| PRJNA75409 | ENA
Project description:NIGMS Human Genetic Cell Repository: CEPH Family Panels
| PRJNA75669 | ENA
Project description:<p>As part of an effort to correlate molecular copy number variation determinations with state of the art karyotype analyses, 716 samples derived from 697 individuals from the Chromosomal Aberrations and Inherited Disorders collections of the NIGMS Human Genetic Cell Repository were genotyped and analyzed for CNV determination by the Microarray Center at the Coriell Institute for Medical Research. Karyotyping is performed on all cell cultures in the Repository with reported chromosome abnormalities. The samples chosen for genotyping in this study are intended to represent a diverse set of copy number variants, but the selection was also weighted to over-sample commonly manifested types of aberrations. When available, the ISCN description of the sample based on G-banding and FISH analysis is included in the phenotypic data. Karyotypes for these cells can be viewed in the online Repository catalog (<a href="http://ccr.coriell.org/Sections/Collections/NIGMS/?SsId=8" target="_blank">http://ccr.coriell.org/Sections/Collections/NIGMS/?SsId=8</a>).</p>
| phs000269 | dbGaP
Project description:<p>As part of an effort to correlate molecular copy number variation determinations with state of the art karyotype analyses, 716 samples derived from 697 individuals from the Chromosomal Aberrations and Inherited Disorders collections of the NIGMS Human Genetic Cell Repository were genotyped and analyzed for CNV determination by the Microarray Center at the Coriell Institute for Medical Research. Karyotyping is performed on all cell cultures in the Repository with reported chromosome abnormalities. The samples chosen for genotyping in this study are intended to represent a diverse set of copy number variants, but the selection was also weighted to over-sample commonly manifested types of aberrations. When available, the ISCN description of the sample based on G-banding and FISH analysis is included in the phenotypic data. Karyotypes for these cells can be viewed in the online Repository catalog (<a href="http://ccr.coriell.org/Sections/Collections/NIGMS/?SsId=8" target="_blank">http://ccr.coriell.org/Sections/Collections/NIGMS/?SsId=8</a>).</p>
| phs000269.v1.p1 | EGA
Project description:Chromosomal aberration of malignant pleural mesothelioma cell lines
| PRJNA128853 | ENA
Project description:Chromosomal aberration of ESCC and HSCC cell lines
| PRJNA105791 | ENA
Project description:<p>The Human Genetic Cell Repository is sponsored by the <a href="http://www.nigms.nih.gov/" target="_blank">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 cell cultures and high quality, well-characterized DNA samples derived from these cultures, both subjected to rigorous quality control. The Repository was established in 1972 at Coriell and contains more than 9,500 cell lines, primarily fibroblasts and transformed lymphoblasts. The Repository has a major emphasis on inherited diseases and chromosomally aberrant cell lines. In addition, it contains a large collection dedicated to understanding human variation that includes samples from populations around the world, the CEPH collection, the Polymorphism Discovery Resource, Human Variation and many apparently healthy controls.</p> <p>The Human Variation collection provides cell lines and DNA samples from a variety of populations. The panels of African-Americans (HD100AA) and Caucasians (100CAU) used for this study are comprised of samples present in the Repository that were originally collected over the years from apparently healthy people to be used as "controls", for example, unaffected family members of persons with identified mono-genetic diseases. The samples for the Han people of Los Angeles (HD100CHI) and the Mexican American Community of Los Angeles (HD100MEX), however, were collected relatively recently from volunteers, identified as member of these communities, specifically for use in these panels.</p> <p>The Coriell Genotyping and Microarray Center in conjunction with the NIGMS repository used the Affymetrix Genome-Wide Human SNP 6.0 platform to genotype 400 samples from the NIGMS human variation panels. The populations genotyped included Americans of African, Caucasian, Mexican, and Han Chinese ancestry. The Affymetrix SNP 6.0 array detects approximately 940,000 SNPs and provides copy number information for more than 900,000 additional locations across the genome.</p>
| phs000211 | dbGaP