ID
45965
Description
Principal Investigator: Jorge Di Paola, MD, University of Colorado Denver Anschutz Medical Campus, Aurora, CO, USA MeSH: Thrombocytopenia,Abnormal Erythrocytes,B-Cell Leukemia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000873 A family with a history of bleeding, variable thrombocytopenia, red cell macrocytosis and two cases of pre B-cell acute lymphoblastic leukemia was studied in a single visit. The family was assessed for bleeding history using a bleeding questionnaire. Additionally, complete blood counts were measured and whole blood was collected from five affected individuals and three unaffected individuals for DNA extraction and whole exome sequencing. The goal of this study is to determine the genetic cause of thrombocytopenia, red cell macrocytosis, and predisposition to leukemia in a family. It is hoped that the information obtained from this study will help researchers understand the genetic and molecular basis of platelet and red cell production, as well as leukemia predisposition.
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Versions (1)
- 3/26/24 3/26/24 - Madita Rudolph
Copyright Holder
Jorge Di Paola, MD, University of Colorado Denver Anschutz Medical Campus, Aurora, CO, USA
Uploaded on
March 26, 2024
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000873 Exome sequencing of a family with thrombocytopenia and leukemia
Subject - Consent - Affection Status Information
- StudyEvent: SEV1
- Eligibility Criteria
- Subject - Consent - Affection Status Information
- Pedigree Information
- Subject - Sample Mapping - Sample Use Information
- The dataset includes information about diagnosis (ASD - Autism Spectrum Disorder), cause of death, post-mortem interval to sample acquisition, and basic socio-demographic data.
- Sample - Attribute Information
Similar models
Subject - Consent - Affection Status Information
- StudyEvent: SEV1
- Eligibility Criteria
- Subject - Consent - Affection Status Information
- Pedigree Information
- Subject - Sample Mapping - Sample Use Information
- The dataset includes information about diagnosis (ASD - Autism Spectrum Disorder), cause of death, post-mortem interval to sample acquisition, and basic socio-demographic data.
- Sample - Attribute Information
C0441833 (UMLS CUI [1,2])
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])