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UnknownUnravelling the story of protein misfolding in diabetes mellitus.
Both environmental and genetic factors contribute to the development of diabetes mellitus and although monogenic disorders are rare, they offer unique insights into the fundamental biology underlying the disease. Mutations of the insulin gene or genes involved in the response to protein misfolding c...
S-EPMC3158865 | biostudies-literature
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
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
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
GenomicsDAC for study SEQCAP Analysis Of Genomic Integrity Of Disease Corrected Human Pluripotent Stem Cells
Data Access Committee EGAC00001000021
EGAC00001000021 | EGA
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