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TranscriptomicsRNA sequencing comparing the effect of the introduction of RUNX1-D171N (RHD) in control- or SCN -CSF3R-d715 hematopoietic progenitor cells (HPCs)
To address how CSF3R and RUNX1 mutations affect hematopoiesis in a severe congenital neutropenia (SCN) background we used SCN patient, or control, derived induced pluripotent stem cells (iPSC). HPCs were generated from CRISPR-Cas9 genome edited CSF3R-d715 SCN or control-derived iPSCs with the STEMdi...
ORGANISM(S): Homo sapiens 
2020-08-24 | E-MTAB-9375 | biostudies-arrayexpress
TranscriptomicsRNA sequencing comparing SCN CSF3R-d715 RUNX1-D171N (RHD) treated with the HDAC inhibitor MS275, octyl-(R)-2hydroxyglutarate (2HG) or solvent control (DMSO)
Effects of TET2 on repressing inflammation have been assigned to its methylcytosine dioxygenase activity, but also to its ability to recruit HDAC-mediated repressor activity to pro-inflammatory genes. To discriminate between the two above-proposed functions of TET2, we asked how inhibition of its en...
ORGANISM(S): Homo sapiens 
2020-08-24 | E-MTAB-9374 | biostudies-arrayexpress
TranscriptomicsEyeless: Pitx3 mutant mouse line, Expression profiling of liver
A new mouse mutant arose spontaneously at the 5th inbred generation in a congenic C3H/He line. Since the mice suffered from anophthalmia or microphthalmia, we referred to this new mutant as eyeless (provisional gene symbol: eyl). The mutation follows an autosomal recessive pattern of inheritance and...
ORGANISM(S): Mus musculus 
2010-05-19 | E-GEOD-15336 | biostudies-arrayexpress
TranscriptomicsDNA sequencing comparing different stages of leukemic progression in a mouse model of severe congenital neutropenia (SCN)
To address how Csf3r and RUNX1 mutations in combination with CSF3 administration affect hematopoiesis in vivo, we performed serial transplantation experiments. Lineage-negative Csfr-d715 BM cell cells were lentivirally transduced with the patient specific RUNX1-D171N (RHD) mutant or an empty vector ...
ORGANISM(S): Mus musculus 
2020-08-24 | E-MTAB-9376 | biostudies-arrayexpress
TranscriptomicsRNA sequencing comparing different stages of leukemic progression in a mouse model of severe congenital neutropenia (SCN)
To address how Csf3r and RUNX1 mutations in combination with CSF3 administration affect hematopoiesis in vivo, we performed serial transplantation experiments. Lineage-negative Csfr-d715 BM cell cells were lentivirally transduced with the patient specific RUNX1-D171N (RHD) mutant or an empty vector ...
ORGANISM(S): Mus musculus 
2020-08-24 | E-MTAB-9377 | biostudies-arrayexpress
TranscriptomicsRNA sequencing comparing the transcriptome of a severe congenital neutropenia (SCN) patient who progressed to AML (SCN-AML) with the SCN phase and healthy controls
CD34+ hematopoietic stem progenitor cells (HSPCs) from cryo-preserved blood or bone marrow were FACS sorted in TriZol and RNA was isolated according to the manufacturer’s protocol. SMARTer Ultra Low Input RNA kit for sequencing (Clontech, v4 Cat# 634891) was used to generate cDNA. Sequencing librari...
ORGANISM(S): Homo sapiens 
2020-08-24 | E-MTAB-9381 | biostudies-arrayexpress
TranscriptomicsGene expression in striatums of Foxp2-hum, Foxp2-ko and wild-type mice
It has been proposed that two amino acid substitutions in the transcription factor FOXP2 have been positively selected during human evolution due to effects on aspects of speech and language. Here, we introduce these substitutions into the endogenous Foxp2 gene.of mice. Although these mice are gener...
ORGANISM(S): Mus musculus 
2010-05-22 | E-GEOD-13588 | biostudies-arrayexpress
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