ID

45629

Beschrijving

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

Trefwoorden

  1. 02-03-23 02-03-23 - Simon Heim
Houder van rechten

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

Geüploaded op

2 maart 2023

DOI

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Licentie

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

pht006346
Beschrijving

pht006346

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Beschrijving

SUBJECT_ID

Datatype

string

Alias
UMLS CUI [1,1]
C2348585
Consent group as determined by DAC
Beschrijving

CONSENT

Datatype

text

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C0441833
Source repository where subjects originate
Beschrijving

SUBJECT_SOURCE

Datatype

string

Alias
UMLS CUI [1,1]
C3847505
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C0681850
Subject ID used in the Source Repository
Beschrijving

SOURCE_SUBJECT_ID

Datatype

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C3847505
UMLS CUI [1,3]
C0449416

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Subject - Consent - Information

Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
pht006346
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
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
Consent group as determined by DAC
CL Item
General Research Use (GRU) (1)
C0021430 (UMLS CUI [1,1])
C0242481 (UMLS CUI [1,2])
CL Item
Health/Medical/Biomedical (HMB) (2)
SUBJECT_SOURCE
Item
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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