ID
45639
Descrição
Principal Investigator: Daniel J. Rader, MD, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA MeSH: Lipids,Cholesterol,Cholesterol, LDL,Cholesterol, HDL,Triglycerides,Dyslipidemias https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001341 The goal of the PhLiPS study is to create a library of induced pluripotent stem cell (iPSC) lines and iPSC-derived hepatocytes of diverse genotypes for use in metabolic profiling and interrogating lipid phenotypes. These cell lines were created as a part of the Next Generation Genetic Association Studies (Next Gen) Program, which was a five-year, $80 million program to investigate functional genetic variation in humans by assessing cellular profiles that are surrogates for disease phenotypes. To achieve this, researchers from multiple institutions across the U.S. were awarded grants to derive iPSC lines from more than 1,500 individuals representing various conditions as well as healthy controls for use in functional genomic ("disease in a dish") research. This extensive panel includes a diverse set of age, gender, and ethnic backgrounds, and therefore will be an invaluable tool for evaluations across demographics. Further enhancing the utility of these cell lines are data sets such as phenotyping, GWAS, genome sequencing, gene expression and -omics analyses (e.g., lipidomic, proteomic, methylomic) that can be matched to the cell lines. The PhLiPS Study focuses on individuals free of cardiovascular disease or with lipoprotein metabolism disorders in the community served by the Hospital of the University of Pennsylvania.
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Versões (1)
- 11.03.23 11.03.23 - Chiara Middel
Titular dos direitos
Daniel J. Rader, MD, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
Transferido a
11. März 2023
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs001341 NextGen Consortium: iPS Derived Hepatocytes Study (PhLiPS Study)
The subject consent data table contains patient IDs, consent group information, and affection status of subject for cardiovascular disease or lipoprotein metabolism disorders.
- StudyEvent: SEV1
- The subject consent data table contains patient IDs, consent group information, and affection status of subject for cardiovascular disease or lipoprotein metabolism disorders.
- This subject sample mapping data table includes a mapping of study patient IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype data table includes the subject's sex, self-reported ethnicity, age at sampling, total cholesterol, HDL-C, triglycerides, LDL-C, and FACS staining for differentiation assessment.
- This sample attributes table includes body site where sample was collected, analyte type, histological type, tumor status, genotyping center, and sequencing center.
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, and sex of subjects.
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The subject consent data table contains patient IDs, consent group information, and affection status of subject for cardiovascular disease or lipoprotein metabolism disorders.
- StudyEvent: SEV1
- The subject consent data table contains patient IDs, consent group information, and affection status of subject for cardiovascular disease or lipoprotein metabolism disorders.
- This subject sample mapping data table includes a mapping of study patient IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype data table includes the subject's sex, self-reported ethnicity, age at sampling, total cholesterol, HDL-C, triglycerides, LDL-C, and FACS staining for differentiation assessment.
- This sample attributes table includes body site where sample was collected, analyte type, histological type, tumor status, genotyping center, and sequencing center.
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, and sex of subjects.
C0441833 (UMLS CUI [1,2])
C0549184 (UMLS CUI [1,2])
C0009797 (UMLS CUI [1,3])
C0205257 (UMLS CUI [1,4])
C2700399 (UMLS CUI [1,5])
C0030761 (UMLS CUI [1,6])
C5418626 (UMLS CUI [2,1])
C0549184 (UMLS CUI [2,2])
C0009797 (UMLS CUI [2,3])
C0205257 (UMLS CUI [2,4])
C2700399 (UMLS CUI [2,5])
C0017431 (UMLS CUI [2,6])
C4553389 (UMLS CUI [2,7])
C0242481 (UMLS CUI [1,2])