ID

45762

Beschreibung

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

Link

dbGaP-study=phs001139

Stichworte

  1. 16.06.23 16.06.23 - Chiara Middel
Rechteinhaber

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

Hochgeladen am

16. Juni 2023

DOI

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Lizenz

Creative Commons BY 4.0

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dbGaP phs001139 NextGen/GENESiPS

Sample Attribute Information

pht006162
Beschreibung

pht006162

Alias
UMLS CUI [1,1]
C3846158
De-identified Sample ID
Beschreibung

SAMPLE_ID

Datentyp

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Analyte type used
Beschreibung

ANALYTE_TYPE

Datentyp

string

Alias
UMLS CUI [1,1]
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Sample cell type
Beschreibung

HISTOLOGICAL_TYPE

Datentyp

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Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
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Ähnliche Modelle

Sample Attribute Information

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht006162
C3846158 (UMLS CUI [1,1])
SAMPLE_ID
Item
De-identified Sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
ANALYTE_TYPE
Item
Analyte type used
string
C4744818 (UMLS CUI [1,1])
HISTOLOGICAL_TYPE
Item
Sample cell type
string
C2347026 (UMLS CUI [1,1])
C0449475 (UMLS CUI [1,2])

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