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TranscriptomicsRNA-seq of hepatocytes obtained through step-wise differentiation of hIPSCs from a patient with A1AT deficiency and its point mutation-corrected isogenic hIPSC line. Comparison to primary hepatocytes from a healthy donor and an A1AT-deficient patient.
A1AT deficiency is an autosomal not recessive disorder caused by mutations in the SERPINA1 gene. Individuals with the Z variant retain polymerised protein in the endoplasmic reticulum of hepatocytes, predisposing them to liver disease. This study primarily aimed to uncover the molecular mechanisms t...
ORGANISM(S): Homo sapiens 
2018-06-26 | E-MTAB-6781 | biostudies-arrayexpress
GenomicsDAC for study SEQCAP Analysis Of Genomic Integrity Of Disease Corrected Human Pluripotent Stem Cells
Data Access Committee EGAC00001000021
EGAC00001000021 | EGA
GenomicsDistinctive Chromatin in Human Sperm Packages Genes that Guide Embryo Development: ChIP-seq
As nucleosomes are widely replaced by protamine in mature human sperm, epigenetic contributions to embryo development appear limited. However, our genome-wide approaches find nucleosomes at low levels genome-wide, but also significantly enriched at imprinted gene clusters, miRNA clusters, HOX gene...
ORGANISM(S): Homo sapiens 
2009-06-15 | E-GEOD-15690 | biostudies-arrayexpress
TranscriptomicsThe Dynamic Transcriptome of Schizosaccharomyces pombe Revealed by RNA/DNA Hybrid Mapping
We determined the strand-specific transcriptome of the fission yeast S. pombe under multiple growth conditions using a novel RNA/DNA hybridization mapping (HybMap) technique. HybMap uses an antibody against an RNA/DNA hybrid to detect RNA molecules hybridized to a high density DNA oligonucleotide ti...
ORGANISM(S): Schizosaccharomyces pombe 
2008-06-29 | E-GEOD-11619 | biostudies-arrayexpress
UnknownThe Toxoplasma Dense Granule Proteins GRA17 and GRA23 Mediate the Movement of Small Molecules between the Host and the Parasitophorous Vacuole.
Not available
S-EPMC4435723 | biostudies-literature
GenomicsAnalysis of genomic integrity of disease corrected human induced pluripotent stem cells by exome sequencing
Induced pluripotent stem (iPS) cells hold great promise for autologous cell transplantation. In order to apply this therapy to monogenic disorder, disease-causing mutations must be corrected prior to transplantation. We generated iPS cells from patients with alpha-1 antitrypsin deficiency, which is ...
EGAS00001000055 | EGA
GenomicsEGAS00001000055-sc-20120125 - samples
Analysis of genomic integrity of disease-corrected human induced pluripotent stem cells by exome sequencing
EGAD00001000086 | EGA
GenomicsEGAS00001000055-sc-20110804 - samples
Analysis of genomic integrity of disease-corrected human induced pluripotent stem cells by exome sequencing
EGAD00001000030 | EGA
UnknownUrologic chronic pelvic pain syndrome 3-year symptom trajectories: the Multidisciplinary Approach to the Study of Chronic Pelvic Pain (MAPP) Symptom Patterns Study.
Not available
S-EPMC12789841 | biostudies-literature
UnknownResults of the two incidence screenings in the National Lung Screening Trial.
Not available
S-EPMC4307922 | biostudies-literature
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