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NextGen Consortium: The iPSCORE (iPSC Collection for Omic Research) Resource for Studying the Impact of Genetic Variation on Molecular Phenotypes

Ancestry (1)

  • GENETICALLY_SIMILAR_POPULATION_GROUP - Most similar super population group as estimated by comparing the individuals SNPs to the 1KG dataset by PCA. This value is the super population values from 1KG, not eg "Asian". (phv00292599.v2.p2)

Demographics (4)

Race and Ethnicity (1)

  • REPORTED_RACE_ETHNICITY - Reported race/ethnicity of participant as recorded by fill in the blank (phv00292597.v2.p2)

Other (63)

  • ANALYTE_TYPE - Analyte Type (phv00292617.v5.p2)
  • ARRAY_VERSION - Version of array (phv00292621.v5.p2)
  • CHROMATIN_ASSAY_TYPE - The type of assay performed for chromatin-based assays (phv00395937.v4.p2)
  • CLONE - Original clone number from which cell line was expanded (phv00292612.v5.p2)
  • CONSENT - CONSENT (phv00292582.v4.p2)
  • DIFFERENTIATION_PROTOCOL - Differentation protocol used for iPSC-derived samples (phv00395934.v4.p2)
  • DISEASE_ONTOLOGY_CODE - Disease ontology (DO) code for primary heart diagnoses as described http://www.disease-ontology.org/ and obtained through http://www.malacards.org/ (phv00292604.v2.p2)
  • FAMILY_ID - Family ID (phv00292583.v1.p2)
  • FATHER_SUBJECT_ID - Father's SUBJECT_ID (phv00292585.v1.p2)
  • GENOTYPING_CENTER - Name of the center which conducted genotyping (phv00292619.v5.p2)
  • HEART_DISEASE_CATEGORY - Classification of primary heart diagnoses for individuals recruited through the UCSD Sulpizio Cardiovascular Center (phv00292600.v2.p2)
  • HEART_DISEASE_COMMENT - Comment on heart diagnoses for individuals recruited through the UCSD Sulpizio Cardiovascular Center (phv00292603.v2.p2)
  • HISTOLOGICAL_TYPE - Cell or tissue type or subtype of sample (phv00292610.v5.p2)
  • ILLUMINA_ARRAY_COORDINATES - Array number and coordinates for arrays (phv00292622.v5.p2)
  • IPSC_MATCHED_TO_CM - Indicator for whether the iPSC molecular sample was matched to a CM or CVPC sample (phv00541417.v1.p2)
  • iPSCORE_ID - De-identified Subject ID (phv00292594.v2.p2)
  • IS_TUMOR - Tumor status (phv00292611.v5.p2)
  • MATCHED_GERMLINE_ARRAY - ILLUMINA_ARRAY_COORDINATES of paired germline sample for iPSC (phv00292623.v5.p2)
  • MOTHER_SUBJECT_ID - Mother's SUBJECT_ID (phv00292586.v1.p2)
  • MZorDZ - An indicator when an individual is a monozygotic or dizygotic twin. (phv00292589.v1.p2)
  • OTHER_HEART_DIAGNOSES - Other (non-primary) heart diagnoses for individuals recruited through the UCSD Sulpizio Cardiovascular Center (phv00292602.v2.p2)
  • PASSAGE - Passage number of cell line which was analysed (phv00292613.v5.p2)
  • POOLED_SAMPLE - Indicator for whether sample is a pool of other samples (phv00541438.v1.p2)
  • POOLED_SUBJECT - Indicator of whether subject is a pool of other subjects (phv00541413.v1.p2)
  • PRIMARY_HEART_DIAGNOSES - Primary heart diagnosis for individuals recruited through the UCSD Sulpizio Cardiovascular Center (phv00292601.v2.p2)
  • PUBLISHED - Indicator for whether sample was part of a published study (phv00541419.v1.p2)
  • RACE_ETHNICITY_GROUPING - Race/ethnicity category as grouped by researcher (phv00292598.v2.p2)
  • REPROGRAMMING_METHOD - The technology used to generate induced pluripotent stem cells (iPSCs) (phv00292614.v5.p2)
  • RNA_ASSAY_TYPE - Type of assay performed for RNA (phv00541418.v1.p2)
  • SAMPLE_ID - De-identified unique Sample ID (phv00292609.v5.p2)
  • SAMPLE_ID - Sample ID (phv00292591.v5.p2)
  • SAMPLE_NAME - De-identified Sample name containing experimental condition identifiers (phv00541415.v1.p2)
  • SAMPLE_SOURCE - Organisation providing original sample (phv00292618.v5.p2)
  • SEQUENCING_CENTER - Name of the center which conducted sequencing (phv00292620.v5.p2)
  • SUBJECT_ID - De-identified unique Subject ID with the format of either a universally unique identifier (UUID) for subjects with data or the iPSCORE_ID for those that are only in pedigree file (phv00292593.v2.p2)
  • SUBJECT_ID - SUBJECT_ID (phv00292584.v1.p2)
  • SUBJECT_ID - SUBJECT_ID (phv00292581.v4.p2)
  • SUBJECT_ID - Subject ID (phv00292590.v5.p2)
  • SUBJECT_IDS_OF_POOLED_SAMPLES - Comma separated list of pooled SUBJECT_IDs which this subject is a part of. 0 if the SUBJECT_ID is not in a pool of subjects. (phv00541414.v1.p2)
  • SUBSTUDY_ABERRANT_METHYLATION_PMID28388429 - Indicator for whether sample was part of paper studying aberrant iPSC methylation in twins (PMID 28388429) (phv00541421.v1.p2)
  • SUBSTUDY_CM_EPDC_MIXTURE - Indicator for whether sample was generated using different proportions of CM and EPDC (unpublished) (phv00541431.v1.p2)
  • SUBSTUDY_CM_LNCRNA - Indicator for whether sample was part of paper examining lncrnas in iPSC-CMs (unpublished) (phv00395943.v4.p2)
  • SUBSTUDY_CM_TIMECOURSE - Indicator for whether sample was part of the cardiomyocyte timecourse study (RNA was published in PMID 28410642) (phv00541423.v1.p2)
  • SUBSTUDY_CVPC_ALTSPLICE_PMID35226669 - Indicator for whether sample was part of paper studying alternative splicing in CVPC (PMID 35226669) (phv00541432.v1.p2)
  • SUBSTUDY_CVPC_CHRX_DIFF_PMID31668852 - Indicator for whether sample was part of paper examining differentiation of iPSCs to iPSC-derived cardiomyocytes or cardiovascular precursor cells (CVPC) (PMID 31668852) (phv00541430.v1.p2)
  • SUBSTUDY_CVPC_EQTL_PMID36854752 - Indicator for whether sample was part of paper studying eQTL in iPSC-derived cardiovascular progenitor cells (PMID 36854752) (phv00541433.v1.p2)
  • SUBSTUDY_IFNG_STIMULATION - Indicator for whether sample was part of paper studying molecular and epigenomic changes in IFNg-stimulated cardiovascular progenitor cells (https://doi.org/10.1101/2024.05.03.592380) (phv00541435.v1.p2)
  • SUBSTUDY_INTER_INTRA - Indicator for whether sample was part of paper studying inter- and intra-variability between iPSC clones (unpublished) (phv00541427.v1.p2)
  • SUBSTUDY_IPSC_CM_HIC_PMID30837461 - Indicator for whether sample was part of paper studying Hi-C in iPSCs and iPSC-derived cardiomyocytes (PMID 30837461) (phv00541425.v1.p2)
  • SUBSTUDY_IPSC_CM_NKX25_PMID31570892 - Indicator for whether sample was part of paper studying allele-specific NKX2-5 binding in iPSC-derived cardiomyocytes (PMID 31570892) (phv00541424.v1.p2)
  • SUBSTUDY_IPSC_COACCESSIBILITY_PMID38395976 - Indicator for whether sample was part of paper examining co-accessibility between ATAC sites within iPSCs (PMID 38395976) (phv00541436.v1.p2)
  • SUBSTUDY_IPSC_EQTL_PMID28388430 - Indicator for whether sample was part of paper studying expression quantitative trait loci (eQTL) in iPSC (PMID 28388430) (phv00541422.v1.p2)
  • SUBSTUDY_IPSC_SOMATIC_PMID30044985 - Indicator for whether sample was part of paper studying the mutational burden of iPSCs (PMID 30044985) (phv00541426.v1.p2)
  • SUBSTUDY_iPSCORE_RESOURCE_PMID28410642 - Indicator for whether sample was part of iPSCORE resource paper (PMID 28410642) (phv00541420.v1.p2)
  • SUBSTUDY_IPSCORE_SV_PMID32522985_PMID32522982 - Indicator for whether sample was part of paper examining structural variation in iPSCORE (PMID 32522982, 32522982) (phv00541429.v1.p2)
  • SUBSTUDY_MULTI_QTL - Indicator for whether sample was part of paper studying multi-omic QTLs in iPSC and derived tissues (https://doi.org/10.1101/2024.04.10.588874) (phv00541437.v1.p2)
  • SUBSTUDY_PPC_EQTL_PMID37903777 - Indicator for whether sample was part of paper studying eQTL in iPSC-derived pancreatic progenitor cells (PMID 37903777) (phv00541434.v1.p2)
  • SUBSTUDY_RPE_PILOT_PMID31080113 - Indicator for whether sample was part of paper examining the utility of iPSC-derived retinal pigment epithelium to study the genetics of eye diseases (PMID 31080113) (phv00541428.v1.p2)
  • TIMECOURSE_DAY_OF_CM_DIFF - Day of cardiomyocyte differentiation (phv00541416.v1.p2)
  • TWIN_ID - Number indicating pair of monozygotic twins (phv00292588.v1.p2)
  • UCSD_DIFFERENTIATION_ID - Differentiation ID indicating the order in which the derived cell type was differentiated within a given study. Molecular samples with the same Differentiation ID were generated from the same derived cell type. iPSC molecular samples with Differentiation IDs were derived from the iPSC line at D0 of the differentiation protocol. (phv00395936.v4.p2)
  • UCSD_SOURCE_TISSUE_ID - UUID Identifier for tissue sample of fibroblast, blood or iPSC (phv00292615.v5.p2)
  • WICELL_ID - WiCell identifier assigned to iPSC line archived at WiCell Research Institute, Wisconsin, USA (phv00292616.v5.p2)