ID

45762

Descrizione

Principal Investigator: Thomas Quertermous, MD, Standford University, Stanford, CA, USA MeSH: Insulin Resistance,Pluripotent Stem Cells https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001139 Variability in induced pluripotent stem cell (iPSC) lines remains a roadblock for disease modeling and regenerative medicine. Through linear mixed models we have described different sources of gene expression variability from RNA sequencing data in 317 human iPSC lines from 101 individuals. We found that ~50% of genome-wide expression variability is explained by variation across individuals and identified a set of expression quantitative trait loci that contribute to this variation. These analyses coupled with allele specific expression show that iPSCs retain a subject-specific gene expression pattern. Pathway enrichment and key driver analyses, based on predictive causal gene networks, found that Polycomb targets explain a significant part of the non-genetic variability present in iPSCs within and across individuals. These publically available iPSC lines and genetic datasets will be a resource to the scientific community and will open new avenues to reduce variability in iPSCs and improve their utility in disease modeling. SNP array data from individuals included in RNA-seq transcriptome profiling study of human induced pluripotent stem cells to characterize gene expression variation across individuals and within multiple iPSC lines from the same individual. Genotyping was performed on patient blood. Data availability:- SNP-genotyping: dbGaP - current study - RNA-seq counts: GEO - GSE79636 - FASTQ files: SRA - SRP072417

collegamento

dbGaP-study=phs001139

Keywords

  1. 16/06/23 16/06/23 - Chiara Middel
Titolare del copyright

Thomas Quertermous, MD, Standford University, Stanford, CA, USA

Caricato su

16 giugno 2023

DOI

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Licenza

Creative Commons BY 4.0

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dbGaP phs001139 NextGen/GENESiPS

Subject - Consent Information

pht006159
Descrizione

pht006159

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

SUBJECT_ID

Tipo di dati

string

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

CONSENT

Tipo di dati

text

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

SUBJECT_SOURCE

Tipo di dati

string

Alias
UMLS CUI [1,1]
C3847505
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C0681850

Similar models

Subject - Consent Information

Name
genere
Description | Question | Decode (Coded Value)
Tipo di dati
Alias
Item Group
pht006159
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 (IRB) (GRU-IRB) (1)
C0021430 (UMLS CUI [1,1])
C0242481 (UMLS CUI [1,2])
SUBJECT_SOURCE
Item
Source repository where subjects originate
string
C3847505 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])

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