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ID
45901
Descripción
Principal Investigator: Mignon Loh, MD, University of California, San Francisco, CA, USA MeSH: Leukemia, Myelomonocytic, Juvenile https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000973 This study analyzed samples from 29 patients with juvenile myelomonocytic leukemia (JMML) using whole exome sequencing. Each patient had a paired germline tissue along with a diagnostic leukemia sample. Germline tissue types included buccal mucosa, cordblood, Epstein-Barr virus immortalized cell lines and fibroblasts from either skin or bone marrow. Leukemia samples were either blood or bone marrow. Seven of the 29 patients also had a relapsed leukemia sample available for exome analysis.
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Versiones (1)
- 12/12/23 12/12/23 - Simon Heim
Titular de derechos de autor
Mignon Loh, MD, University of California, San Francisco, CA, USA
Subido en
12 de diciembre de 2023
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs000973 The Genomic Landscape of Juvenile Myelomonocytic Leukemia
This subject phenotype table contains subject ID, gender, age, primary disease, laboratory measurements (n= 7 variables; white blood count, absolute monocyte count, platelet count, fetal hemoglobin levels, missing a copy of chromosome 7 or not, abnomal enlargement of the spleen or not, and abnomal enlargement of the liver or not), patient treatment, outcome of the treatment, and status of patient at the time of study.
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs and consent information.
- This data table contains a 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. The data table also includes sample use.
- This subject phenotype table contains subject ID, gender, age, primary disease, laboratory measurements (n= 7 variables; white blood count, absolute monocyte count, platelet count, fetal hemoglobin levels, missing a copy of chromosome 7 or not, abnomal enlargement of the spleen or not, and abnomal enlargement of the liver or not), patient treatment, outcome of the treatment, and status of patient at the time of study.
- This sample attributes table contains sample ID, sample type, sample origin, analyte type, and tissue type.
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This subject phenotype table contains subject ID, gender, age, primary disease, laboratory measurements (n= 7 variables; white blood count, absolute monocyte count, platelet count, fetal hemoglobin levels, missing a copy of chromosome 7 or not, abnomal enlargement of the spleen or not, and abnomal enlargement of the liver or not), patient treatment, outcome of the treatment, and status of patient at the time of study.
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs and consent information.
- This data table contains a 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. The data table also includes sample use.
- This subject phenotype table contains subject ID, gender, age, primary disease, laboratory measurements (n= 7 variables; white blood count, absolute monocyte count, platelet count, fetal hemoglobin levels, missing a copy of chromosome 7 or not, abnomal enlargement of the spleen or not, and abnomal enlargement of the liver or not), patient treatment, outcome of the treatment, and status of patient at the time of study.
- This sample attributes table contains sample ID, sample type, sample origin, analyte type, and tissue type.
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
SUBJID
Item
Unique Participant Identifier
string
C2348585 (UMLS CUI [1,1])
Gender
Item
Participant's gender as Male or Female
string
C0079399 (UMLS CUI [1,1])
Primary Disease
Item
Primary disease of patient
string
C0277554 (UMLS CUI [1,1])
Age_months
Item
Age of patient in number of months
string
C1510828 (UMLS CUI [1,1])
White_Blood_Count
Item
White blood count
text
C0023508 (UMLS CUI [1,1])
Absolute_Monocyte_Count
Item
Blood absolute monocyte count
text
C0200637 (UMLS CUI [1,1])
Platelets
Item
Blood platelet count
text
C0032181 (UMLS CUI [1,1])
Fetal_hemoglobin
Item
Fetal hemoglobin levels
text
C0744776 (UMLS CUI [1,1])
Item
Is the patient missing a copy of chromosome 7?
text
C5145880 (UMLS CUI [1,1])
C1705492 (UMLS CUI [1,2])
C1705492 (UMLS CUI [1,2])
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C1705108 (UMLS CUI [1,1])
Item
Did the patient prensent with an abnomal enlargement of the spleen?
text
C0020532 (UMLS CUI [1,1])
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C1705108 (UMLS CUI [1,1])
Item
Did the patient prensent with an abnomal enlargement of the liver?
text
C0019209 (UMLS CUI [1,1])
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C1705108 (UMLS CUI [1,1])
CL Item
No Treatment (0)
C0746919 (UMLS CUI [1,1])
CL Item
Hematopoietic stem cell transplantation (HSCT) (1)
C0018956 (UMLS CUI [1,1])
C0029216 (UMLS CUI [1,2])
C0029216 (UMLS CUI [1,2])
CL Item
Relapse (Relapse)
C0035020 (UMLS CUI [1,1])
CL Item
Remission (Remission)
C0544452 (UMLS CUI [1,1])
CL Item
Treatment Related Mortality (Treatment Related Mortality)
C5237746 (UMLS CUI [1,1])
Item
Status of patient at the time of study
text
C3846084 (UMLS CUI [1,1])
C0332168 (UMLS CUI [1,2])
C2603343 (UMLS CUI [1,3])
C0332168 (UMLS CUI [1,2])
C2603343 (UMLS CUI [1,3])
CL Item
Dead (0)
C0011065 (UMLS CUI [1,1])
CL Item
Alive (1)
C2584946 (UMLS CUI [1,1])