ID
45713
Description
Principal Investigator: Martin H. Steinberg, Boston University School of Medicine, Boston, MA, USA MeSH: Anemia, Sickle Cell,Fetal Hemoglobin https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001212 - 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. - Identify developmental gene expression profile differences between erythroid precursors that produce primarily HbF and those that produce primarily HbA or HbS. - Determine the effects of the three known HbF major quantitative trait loci (QTL) on globin gene expression in disease-specific iPS cells during in vitro erythropoiesis. - Search for novel HbF genetic modifiers associated with markedly elevated HbF levels found in sickle cell anemia patients naturally, or in response to hydroxyurea treatment, by examining gene expression profiles and mRNA sequence of their iPSC-derived erythroid cells. - Develop and use a CRISPR-based gene editing platform to study the effect of novel HbF genetic modifiers, explore globin switching, and correct the HbS mutation in sickle iPSC lines.
Lien
Mots-clés
Versions (1)
- 17/05/2023 17/05/2023 - Chiara Middel
Détendeur de droits
Martin H. Steinberg, Boston University School of Medicine, Boston, MA, USA
Téléchargé le
17 mai 2023
DOI
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Licence
Creative Commons BY 4.0
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dbGaP phs001212 NextGen Consortium: Globin Gene Expression in Sickle Cell Genotype-Specific iPS Cells
This sample attributes table includes body site where sample was collected, analyte type, genotyping and sequencing centers, experimental details, and indicator for sample duplicates.
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent group information, subject aliases, and affection status for sickle cell anemia.
- This subject sample mapping data table includes 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 aliases and sample use.
- This subject phenotype table includes subject's sex, birthplace, and race, age at blook collection, and fetal hemoglobin percentage.
- This sample attributes table includes body site where sample was collected, analyte type, genotyping and sequencing centers, experimental details, and indicator for sample duplicates.
Similar models
This sample attributes table includes body site where sample was collected, analyte type, genotyping and sequencing centers, experimental details, and indicator for sample duplicates.
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent group information, subject aliases, and affection status for sickle cell anemia.
- This subject sample mapping data table includes 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 aliases and sample use.
- This subject phenotype table includes subject's sex, birthplace, and race, age at blook collection, and fetal hemoglobin percentage.
- This sample attributes table includes body site where sample was collected, analyte type, genotyping and sequencing centers, experimental details, and indicator for sample duplicates.
C1299222 (UMLS CUI [1,2])
C0565990 (UMLS CUI [1,2])
C1285573 (UMLS CUI [1,3])
C0565990 (UMLS CUI [1,2])
C1561491 (UMLS CUI [1,3])
C1522508 (UMLS CUI [1,2])
C1511726 (UMLS CUI [1,2])
C0600140 (UMLS CUI [1,3])
C0205173 (UMLS CUI [1,4])
C0445247 (UMLS CUI [1,5])
C2348585 (UMLS CUI [1,6])
C0026382 (UMLS CUI [1,7])