ID
45640
Descripción
Principal Investigator: Kelly Frazer, PhD, University of California San Diego, CA, USA MeSH: Heart Diseases,Cardiovascular Diseases,Healthy Volunteers https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001325 The iPSCORE Resource of human induced pluripotent stem cells (hiPSCs) was created as part of the Next-Gen Consortium funded by the NHLBI. The overarching purpose of the iPSCORE Resource is to provide a large collection of hiPSCs for use in studying the impact of genetic variation on molecular and physiological phenotypes. This Resource is being used in a number of ongoing studies for which genomic data will be generated and deposited into public repositories and linked through dbGaP. A total of 273 individuals have participated in the study for which 222 have had hiPSCs generated from fibroblasts (available through WiCell (http://www.wicell.org/)). Of the 273 individuals, 181 are part of 55 families that include 24 monozygotic twin pairs and 5 dizygotic twin pairs, allowing for the incorporation of familial relationships into genetic analyses. Germline DNA has been sequenced from blood or fibroblast samples for all 273 individuals (this study) and other genomic data (RNA-seq, DNA methylation, and genotype arrays) has been generated from the 222 hiPSCs derived from a subset of these individuals (phs000924). Current studies include differentiation of these hiPSCs to other cell types, including cardiomyocytes and retinal pigment epithelium, and the generation of additional genomic data.
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Versiones (1)
- 12/3/23 12/3/23 - Chiara Middel
Titular de derechos de autor
Kelly Frazer, PhD, University of California San Diego, CA, USA
Subido en
12 de marzo de 2023
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs001325 NextGen Consortium: The iPSCORE (iPSC Collection for Omic Research) Resource - Whole Genome Sequence
The subject consent data table contains subject IDs and consent information.
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs and consent information.
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, subjects's sex, twin IDs, and indicator for monozygotic and dizygotic twins.
- This data table contains mapping of study subject 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.
- This subject phenotype table includes subject's sex, age at enrollment, race (n=3 variables; self-reported, race/ethnicity grouped by researcher, and genetically similar population groups), heart diagnoses (n=5 variables; primary diagnoses and classification, other diagnoses, comments, and disease ontology), IPSCORE IDs, and indicators if subject was part of a study/paper (n=10 variables; iPSCORE resource, aberrant iPSC methylation in twins, WGS, eQTL, allele-specific NKX2-5 binding in iPSC-CMs, Hi-C in iPSCs and iPSC-CMs, mutational burden of iPSCs, iPSC-derived retinal pigment epithelium, structural variation in IPSCORE, and lncrnas in iPSC-CMs).
- This sample attributes table includes sample histological type, tumor status, analyte type, sample source, other IDs (UCSD source tissue, UCSD iPSC clone, WiCell), sequencing center, clone and passage.
Similar models
The subject consent data table contains subject IDs and consent information.
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs and consent information.
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, subjects's sex, twin IDs, and indicator for monozygotic and dizygotic twins.
- This data table contains mapping of study subject 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.
- This subject phenotype table includes subject's sex, age at enrollment, race (n=3 variables; self-reported, race/ethnicity grouped by researcher, and genetically similar population groups), heart diagnoses (n=5 variables; primary diagnoses and classification, other diagnoses, comments, and disease ontology), IPSCORE IDs, and indicators if subject was part of a study/paper (n=10 variables; iPSCORE resource, aberrant iPSC methylation in twins, WGS, eQTL, allele-specific NKX2-5 binding in iPSC-CMs, Hi-C in iPSCs and iPSC-CMs, mutational burden of iPSCs, iPSC-derived retinal pigment epithelium, structural variation in IPSCORE, and lncrnas in iPSC-CMs).
- This sample attributes table includes sample histological type, tumor status, analyte type, sample source, other IDs (UCSD source tissue, UCSD iPSC clone, WiCell), sequencing center, clone and passage.
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])
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