ID

45629

Beschreibung

Principal Investigator: Kevin Eggan, PhD, Harvard University, Department of Stem Cell and Regenerative Medicine, Cambridge, MA, USA MeSH: Human Embryonic Stem Cells https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001343 Human embryonic stem cells (hESCs) are a powerful tool for the study of human development and can form the basis of cellular disease models or therapies. However, the genetic make-up and stability of hESCs has not been systematically studied at a genome-wide level with single nucleotide resolution. We therefore sequenced the whole exomes of widely available hESCs. The data generated has provided new insights about the nature of acquired variation and the genomic integrity of the cell lines. We anticipate that this online resource will enable investigators to access raw sequencing data in order to interrogate cell lines for different disease and trait-associated genetic variants.

Link

dbGaP study = phs001343

Stichworte

  1. 02.03.23 02.03.23 - Simon Heim
Rechteinhaber

Kevin Eggan, PhD, Harvard University, Department of Stem Cell and Regenerative Medicine, Cambridge, MA, USA

Hochgeladen am

2. März 2023

DOI

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Lizenz

Creative Commons BY 4.0

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dbGaP phs001343 Biological Insights from the genome Sequences of Human Embryonic Stem Cell Lines

Subject - Consent - Information

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Subject - Consent - Information

Name
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Description | Question | Decode (Coded Value)
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Alias
Item Group
pht006346
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
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Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
C0441833 (UMLS CUI [1,2])
Code List
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General Research Use (GRU) (1)
C0021430 (UMLS CUI [1,1])
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Health/Medical/Biomedical (HMB) (2)
SUBJECT_SOURCE
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Source repository where subjects originate
string
C3847505 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
SOURCE_SUBJECT_ID
Item
Subject ID used in the Source Repository
string
C2348585 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])

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