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ID
45901
Description
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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Versions (1)
- 12/12/2023 12/12/2023 - Simon Heim
Détendeur de droits
Mignon Loh, MD, University of California, San Francisco, CA, USA
Téléchargé le
12 décembre 2023
DOI
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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.
Similar models
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
Type
Description | Question | Decode (Coded Value)
Type de données
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])