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WGS of iPSC from TOF patients with/without DG and healthy control

ABSTRACT: To verify the presence and absence of microdeletion on chromosome 22 in TOF-DG patients and TOF-ND patients/control, respectively.

PROVIDER: EGAS00001006035 | EGA |

REPOSITORIES: EGA

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Transcriptomic profiling of human induced pluripotent stem cells derived cardiomyocytes (hiPSC-CMs) and cardiac progentiors (hiPSC-CPs) from tetralogy of Fallot (TOF) patients with DiGeorge Syndrome (DG) and without DiGeorge Syndrome (ND)

Project description:DG accounts for most of the identifiable cases of TOF. Exploring and comparing the transcriptome of hiPSC-CMs and hiPSC-CPs from TOF-DG and TOF-ND could provide a bettering understanding on TOF.

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Emerging genomic assays for identification of chikungunya virus infection in asymptomatic blood donors from Puerto Rico, 2014

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DNA-seq of mitochondrial DNA from mouse heart that is both heart SOD2 knockout and deficient for mitochondrial DNA repair

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2018-07-13 | E-MTAB-6533 | biostudies-arrayexpress

RNA-seq of mouse heart that is both heart SOD2 knockout and deficient for mitochondrial DNA repair

Project description:To study whether increase in mitochondrial oxidative stress (SOD2 removal) and decrease in mitochondrial DNA repair (Ogg1 dMTS) results into increase in mutations in mitochondrial RNA (mtRNA). Oxidative stress has been suggested to induce mutations in mtDNA and as DNA is used as a template in transcription, mutations or 8-oxo-dG on DNA can induce GC>TA transversion accumulation in mtRNA. To verify this, we extracted and sequenced (Illumina) total RNA from heart Sod2 knockout mice alone and mice that were also deficient for mitochondrial base-excision repair. The repair deficiency was induced by removing the genomic region encoding for the predicted mitochondrial targeting sequence from endogenous OGG1 (L2 to W23) called Ogg1 dMTS mice, thus excluding the protein from mitochondria. OGG1 is a DNA glycosylase that recognizes and repairs 8-oxo-dG damage from DNA. Oxidative stress can induce 8-oxo-dG lesions, thus we removed the mitochondrial matrix localized superoxide dismutase (SOD2) from these mice to increase the level of oxidative stress. 8-oxo-dG lesion can be mutagenic because some DNA repair polymerases are known to erroneously incorporate adenosine opposite to 8-oxo-dG during replication leading to GC>TA transversion mutations.

2018-07-13 | E-MTAB-6534 | biostudies-arrayexpress

e493e345-65ac-4193-9a9f-15ab607ba2d6 - samples

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Inhibition of Jak2 in SET2 cell line with INC424 (two time points and 3 dose levels in triplicate)

Project description:SET2 cells were incubated with increasing concentration of INC424/Ruxolitinib for 3-6 h and RNA was purified. Affymetrix Genechip miRNA array 2.0 was used to identify miRNA species showing a differential expression in treated cells compared with control cells. Exponentially growing SET2 cells were cultured in medium supplemented with 10% fetal bovine serum in the presence or the absence (control cells) of 160, 800 e 1,600 nM concentrations of the JAK1 and JAK2 inhibitor INC424/Ruxolitinib for 3 and 6 h. Triplicate cultures were prepared for each drug concentration and culture time. Total cellular RNA, including small RNAs, was extracted using RNeasy Micro kit (Qiagen, Valencia, CA). Disposable RNA chips (Agilent RNA 6000 Nano LabChip kit, Agilent Technologies, Waldbrunn, Germany) were used to determine the purity/integrity of RNA samples using Agilent 2100 Bioanalyzer. NanoDrop ND-1000 spectrophotometer (NanoDrop Technologies, Wilmington, DE) was used to evaluate the RNA sample concentration, and 260/280 and 260/230 nm ratios were considered to verify the purity of total RNA. Total RNA (500ng for samples) was labeled using the FlashTag Biotin HSR kit (Genisphere) and hybridized to the Affymetrix Genechip miRNA array 2.0 using manufacturer's protocols.

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Yeast cells: Mutant M1 vs. the control with and without oxidative stress

2016-03-10 | E-GEOD-79037 | biostudies-arrayexpress

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