Inglese

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).

6 moduli  
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs and consent information.
    3. 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.
    4. 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.
    5. 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).
    6. 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.
pht006352
Descrizione

pht006352

Alias
UMLS CUI [1,1]
C3846158
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
Descrizione

SUBJECT_ID

Tipo di dati

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
De-identified Subject ID
Descrizione

iPSCORE_ID

Tipo di dati

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
Subject sex
Descrizione

SEX

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0079399
Subject age at enrollment
Descrizione

AGE

Tipo di dati

text

Unità di misura
  • years
Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C0011008
UMLS CUI [1,3]
C1516879
years
Reported race/ethnicity of participant as recorded by fill in the blank
Descrizione

REPORTED_RACE_ETHNICITY

Tipo di dati

string

Alias
UMLS CUI [1,1]
C0034510
UMLS CUI [1,2]
C0015031
UMLS CUI [1,3]
C2700446
Race/ethnicity category as grouped by researcher
Descrizione

RACE_ETHNICITY_GROUPING

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0034510
UMLS CUI [1,2]
C0015031
UMLS CUI [1,3]
C0683312
UMLS CUI [1,4]
C0035173
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"
Descrizione

GENETICALLY_SIMILAR_POPULATION_GROUP

Tipo di dati

text

Alias
UMLS CUI [1,1]
C2348205
UMLS CUI [1,2]
C1257890
UMLS CUI [1,3]
C1707455
UMLS CUI [1,4]
C3897601
UMLS CUI [1,5]
C0242356
Classification of primary heart diagnoses for individuals recruited through the UCSD Sulpizio Cardiovascular Center
Descrizione

HEART_DISEASE_CATEGORY

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0008902
UMLS CUI [1,2]
C0332137
UMLS CUI [1,3]
C0018799
Primary heart diagnosis for individuals recruited through the UCSD Sulpizio Cardiovascular Center
Descrizione

PRIMARY_HEART_DIAGNOSES

Tipo di dati

string

Alias
UMLS CUI [1,1]
C0332137
UMLS CUI [1,2]
C0018799
Other (non-primary) heart diagnoses for individuals recruited through the UCSD Sulpizio Cardiovascular Center
Descrizione

OTHER_HEART_DIAGNOSES

Tipo di dati

string

Alias
UMLS CUI [1,1]
C0205394
UMLS CUI [1,2]
C0018799
Comment on heart diagnoses for individuals recruited through the UCSD Sulpizio Cardiovascular Center
Descrizione

HEART_DISEASE_COMMENT

Tipo di dati

string

Alias
UMLS CUI [1,1]
C0947611
UMLS CUI [1,2]
C0018799
Disease ontology (DO) code for primary heart diagnoses as described http://www.disease-ontology.org/ and obtained through http://www.malacards.org/
Descrizione

DISEASE_ONTOLOGY_CODE

Tipo di dati

text

Alias
UMLS CUI [1,1]
C3699388
UMLS CUI [1,2]
C1518584
UMLS CUI [1,3]
C0805701
UMLS CUI [1,4]
C0332137
UMLS CUI [1,5]
C0018799
Indicator for whether subject was part of iPSCORE resource paper
Descrizione

SUBSTUDY_iPSCORE_RESOURCE

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0035201
UMLS CUI [1,4]
C0282420
Indicator for whether subject was part of paper studying aberrant iPSC methylation in twins
Descrizione

SUBSTUDY_ABERRANT_METHYLATION

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C0443127
UMLS CUI [1,5]
C2717959
UMLS CUI [1,6]
C0025723
UMLS CUI [1,7]
C0041427
Indicator for whether subject has whole genome sequence data
Descrizione

SUBSTUDY_WHOLE_GENOME_SEQUENCING

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C0470187
UMLS CUI [1,3]
C4483680
Indicator for whether subject was part of paper studying expression quantitative trait loci (eQTL) in iPSC
Descrizione

SUBSTUDY_IPSC_EQTL

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C3826857
UMLS CUI [1,5]
C2717959
Indicator for whether subject was part of paper studying allele-specific NKX2-5 binding in iPSC-derived cardiomyocytes (bioRxiv 351411; doi: https://doi.org/10.1101/351411)
Descrizione

SUBSTUDY_IPSC_CM_NKX25

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C1413784
UMLS CUI [1,5]
C1624609
UMLS CUI [1,6]
C2717959
UMLS CUI [1,7]
C0225828
Indicator for whether subject was part of paper studying Hi-C in iPSCs and iPSC-derived cardiomyocytes (bioRxiv 352682; doi: https://doi.org/10.1101/352682)
Descrizione

SUBSTUDY_IPSC_CM_HIC

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C0872186
UMLS CUI [1,5]
C2717959
UMLS CUI [1,6]
C0225828
Indicator for whether subject was part of paper studying the mutational burden of iPSCs (bioRxiv 334870; doi: https://doi.org/10.1101/334870)
Descrizione

SUBSTUDY_IPSC_SOMATIC

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C0026882
UMLS CUI [1,5]
C2828008
UMLS CUI [1,6]
C2717959
Indicator for whether subject was part of paper examining the utility of iPSC-derived retinal pigment epithelium to study the genetics of eye diseases
Descrizione

SUBSTUDY_RPE_PILOT

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C1524063
UMLS CUI [1,5]
C2717959
UMLS CUI [1,6]
C4540048
UMLS CUI [1,7]
C2603343
UMLS CUI [1,8]
C0017399
UMLS CUI [1,9]
C0015397
Indicator for whether subject was part of paper examining structural variation in iPSCORE
Descrizione

SUBSTUDY_IPSCORE_SV

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C2717924
UMLS CUI [1,5]
C2717959
Indicator for whether subject was part of paper examining lncrnas in iPSC-CMs
Descrizione

SUBSTUDY_CM_LNCRNA

Tipo di dati

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C2982391
UMLS CUI [1,5]
C2717959
UMLS CUI [1,6]
C0225828
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Similar models

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).

6 moduli
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs and consent information.
    3. 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.
    4. 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.
    5. 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).
    6. 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.
Name
genere
Description | Question | Decode (Coded Value)
Tipo di dati
Alias
Item Group
pht006352
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
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
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
iPSCORE_ID
Item
De-identified Subject ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Subject sex
text
C0079399 (UMLS CUI [1,1])
SEX
Code List
Subject sex
CL Item
Female (F)
C0086287 (UMLS CUI [1,1])
CL Item
Male (M)
C0086582 (UMLS CUI [1,1])
AGE
Item
Subject age at enrollment
text
C0001779 (UMLS CUI [1,1])
C0011008 (UMLS CUI [1,2])
C1516879 (UMLS CUI [1,3])
REPORTED_RACE_ETHNICITY
Item
Reported race/ethnicity of participant as recorded by fill in the blank
string
C0034510 (UMLS CUI [1,1])
C0015031 (UMLS CUI [1,2])
C2700446 (UMLS CUI [1,3])
Item
Race/ethnicity category as grouped by researcher
text
C0034510 (UMLS CUI [1,1])
C0015031 (UMLS CUI [1,2])
C0683312 (UMLS CUI [1,3])
C0035173 (UMLS CUI [1,4])
RACE_ETHNICITY_GROUPING
Code List
Race/ethnicity category as grouped by researcher
CL Item
African American (African American)
CL Item
Asian (Asian)
CL Item
European (European)
CL Item
Hispanic (Hispanic)
CL Item
Indian (Indian)
CL Item
Middle Eastern (Middle Eastern)
CL Item
Multiple ethnicities reported (Multiple ethnicities reported)
Item
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"
text
C2348205 (UMLS CUI [1,1])
C1257890 (UMLS CUI [1,2])
C1707455 (UMLS CUI [1,3])
C3897601 (UMLS CUI [1,4])
C0242356 (UMLS CUI [1,5])
GENETICALLY_SIMILAR_POPULATION_GROUP
Code List
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"
CL Item
AFR (AFR)
CL Item
AMR (AMR)
CL Item
EAS (EAS)
CL Item
EUR (EUR)
CL Item
SAS (SAS)
Item
Classification of primary heart diagnoses for individuals recruited through the UCSD Sulpizio Cardiovascular Center
text
C0008902 (UMLS CUI [1,1])
C0332137 (UMLS CUI [1,2])
C0018799 (UMLS CUI [1,3])
HEART_DISEASE_CATEGORY
Code List
Classification of primary heart diagnoses for individuals recruited through the UCSD Sulpizio Cardiovascular Center
CL Item
Arrhythmia (Arrhythmia)
CL Item
Cardiomyopathy (Cardiomyopathy)
CL Item
Structural (Structural)
PRIMARY_HEART_DIAGNOSES
Item
Primary heart diagnosis for individuals recruited through the UCSD Sulpizio Cardiovascular Center
string
C0332137 (UMLS CUI [1,1])
C0018799 (UMLS CUI [1,2])
OTHER_HEART_DIAGNOSES
Item
Other (non-primary) heart diagnoses for individuals recruited through the UCSD Sulpizio Cardiovascular Center
string
C0205394 (UMLS CUI [1,1])
C0018799 (UMLS CUI [1,2])
HEART_DISEASE_COMMENT
Item
Comment on heart diagnoses for individuals recruited through the UCSD Sulpizio Cardiovascular Center
string
C0947611 (UMLS CUI [1,1])
C0018799 (UMLS CUI [1,2])
Item
Disease ontology (DO) code for primary heart diagnoses as described http://www.disease-ontology.org/ and obtained through http://www.malacards.org/
text
C3699388 (UMLS CUI [1,1])
C1518584 (UMLS CUI [1,2])
C0805701 (UMLS CUI [1,3])
C0332137 (UMLS CUI [1,4])
C0018799 (UMLS CUI [1,5])
DISEASE_ONTOLOGY_CODE
Code List
Disease ontology (DO) code for primary heart diagnoses as described http://www.disease-ontology.org/ and obtained through http://www.malacards.org/
CL Item
Arrhythmogenic Right Ventricular Cardiomyopathy (DOID:0050431)
CL Item
Danon Disease (DOID:0050437)
CL Item
Atrial Fibrillation (DOID:0060224)
CL Item
Left Ventricular Non-Compaction (DOID:0060480)
CL Item
Duchenne Muscular Dystrophy (DOID:11723)
CL Item
Hypertrophic Cardiomyopathy (DOID:11984)
CL Item
Dilated Cardiomyopathy (DOID:12930)
CL Item
Atrial Septal Defect (DOID:1882)
CL Item
Congenital Heart Block (DOID:990)
SUBSTUDY_iPSCORE_RESOURCE
Item
Indicator for whether subject was part of iPSCORE resource paper
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0035201 (UMLS CUI [1,3])
C0282420 (UMLS CUI [1,4])
SUBSTUDY_ABERRANT_METHYLATION
Item
Indicator for whether subject was part of paper studying aberrant iPSC methylation in twins
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C0443127 (UMLS CUI [1,4])
C2717959 (UMLS CUI [1,5])
C0025723 (UMLS CUI [1,6])
C0041427 (UMLS CUI [1,7])
SUBSTUDY_WHOLE_GENOME_SEQUENCING
Item
Indicator for whether subject has whole genome sequence data
float
C1522602 (UMLS CUI [1,1])
C0470187 (UMLS CUI [1,2])
C4483680 (UMLS CUI [1,3])
SUBSTUDY_IPSC_EQTL
Item
Indicator for whether subject was part of paper studying expression quantitative trait loci (eQTL) in iPSC
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C3826857 (UMLS CUI [1,4])
C2717959 (UMLS CUI [1,5])
SUBSTUDY_IPSC_CM_NKX25
Item
Indicator for whether subject was part of paper studying allele-specific NKX2-5 binding in iPSC-derived cardiomyocytes (bioRxiv 351411; doi: https://doi.org/10.1101/351411)
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C1413784 (UMLS CUI [1,4])
C1624609 (UMLS CUI [1,5])
C2717959 (UMLS CUI [1,6])
C0225828 (UMLS CUI [1,7])
SUBSTUDY_IPSC_CM_HIC
Item
Indicator for whether subject was part of paper studying Hi-C in iPSCs and iPSC-derived cardiomyocytes (bioRxiv 352682; doi: https://doi.org/10.1101/352682)
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C0872186 (UMLS CUI [1,4])
C2717959 (UMLS CUI [1,5])
C0225828 (UMLS CUI [1,6])
SUBSTUDY_IPSC_SOMATIC
Item
Indicator for whether subject was part of paper studying the mutational burden of iPSCs (bioRxiv 334870; doi: https://doi.org/10.1101/334870)
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C0026882 (UMLS CUI [1,4])
C2828008 (UMLS CUI [1,5])
C2717959 (UMLS CUI [1,6])
SUBSTUDY_RPE_PILOT
Item
Indicator for whether subject was part of paper examining the utility of iPSC-derived retinal pigment epithelium to study the genetics of eye diseases
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C1524063 (UMLS CUI [1,4])
C2717959 (UMLS CUI [1,5])
C4540048 (UMLS CUI [1,6])
C2603343 (UMLS CUI [1,7])
C0017399 (UMLS CUI [1,8])
C0015397 (UMLS CUI [1,9])
SUBSTUDY_IPSCORE_SV
Item
Indicator for whether subject was part of paper examining structural variation in iPSCORE
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C2717924 (UMLS CUI [1,4])
C2717959 (UMLS CUI [1,5])
SUBSTUDY_CM_LNCRNA
Item
Indicator for whether subject was part of paper examining lncrnas in iPSC-CMs
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C2982391 (UMLS CUI [1,4])
C2717959 (UMLS CUI [1,5])
C0225828 (UMLS CUI [1,6])
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