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Study Detail

Study ID 1029
Name NextGen Consortium: Globin Gene Expression in Sickle Cell Genotype-Specific iPS Cells
Contact Email mhsteinb@bu.edu
Acronym GE-SCD-iPS
Period 2017
Design Case Set
Study PI Martin Steinberg
Institution Boston University School of Medicine
URL https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001212.v1.p1
CTGovID NA
Funding Agency NHLBI
Grant Number U01HL107443
Overview Implement an efficient, highly reproducible and 'scalable' system for the production of large numbers of sickle cell anemia-specific iPS cells (iPSC).Derive and characterize a novel, in vitro system for the production of an unlimited supply of erythroid lineage cells from the directed differentiation of 'clinical grade' transgene-free iPS cells; use this system to recapitulate erythroid-lineage ontogeny in vitro with the sequential development of primitive and definitive erythropoiesis, accompanied by the appropriate expression of stage-specific globin genes.
Focus Areas 1. Sickle cell anemia-specific iPS cells (iPSC)
2. Directed differentiation
3. Globin gene expression
4. Quantitative trait loci (QTL)
5. HbF genetic modifiers
6. Gene editing
Outcomes 1. Development of an In Vitro System
2. Gene Expression Profiles
3. Effects of HbF Quantitative Trait Loci (QTL)
4. CRISPR-Based Gene Editing
Data Location dbGaP
Biospecimen Available Blood; DNA; Plasma; Serum;
Data Consent dbGaP
Biospecimen Consent dbGaP
Contact Consent dbGaP
Genomic Data Yes
Age Range 0-99
No. Participants 55
Inclusion Criteria 1. Genotype-based diagnosis of sickle cell anemia
2. Ability to provide informed consent.
3. No significant health conditions that could interfere with the study outcomes.
Exclusion Criteria 1. Did not have a genotype-based diagnosis of sickle cell anemia.
2. Had other significant health conditions that could interfere with the study outcomes.
3. Were unable to provide informed consent due to cognitive impairments or other reasons.
Study Documentation
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Data ElementVariables
Address
Age Age_blood
Ethnic Group
Gender Sex
Language
National Origin Birthplace
Nuclear Family
Race Race
Data ElementVariables
Blood Differential Test
Blood Gases
Blood Smear
Blood Typing
Coagulation Test
Complete Blood Count
Comprehensive Metabolic Panel (CMP)
Enzyme
General
Hemoglobin Typing HbF
Iron
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