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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
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
GenomicsDAC for study SEQCAP Analysis Of Genomic Integrity Of Disease Corrected Human Pluripotent Stem Cells
Data Access Committee EGAC00001000021
EGAC00001000021 | EGA
UnknownA second update on mapping the human genetic architecture of COVID-19.
Not available
S-EPMC10482689 | biostudies-literature
UnknownAzithromycin in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial.
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S-EPMC7884931 | biostudies-literature
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S-EPMC10962646 | biostudies-literature
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Not available
S-EPMC11320601 | biostudies-literature
UnknownGWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.
Not available
S-EPMC10208981 | biostudies-literature
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