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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 
HiPSCs were differentiated into alveolar type 2 cells (AT2s) following a stepwise differentiation protocol, mimicking lung development, using a chemically defined, serum-free, and xeno-free differentiation protocol. Samples contain biological triplicates of each developmental stage (hiPSCs, definiti...
ORGANISM(S): Homo sapiens 
HiPSCs were differentiated into alveolar type 2 cells (AT2s) following a stepwise differentiation protocol, mimicking lung development, using a chemically defined, serum-free, and xeno-free differentiation protocol. Raw data contains 8 sublibraries which include hiPSC-derived passage 2 (day 76) AT2 ...
ORGANISM(S): Homo sapiens 
To generate an RNA-Seq dataset for organoids apically stimulated with Salmonella Typhimurium. These data are part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), pl...
To generate an RNA-Seq dataset for organoids apically stimulated with Salmonella Typhimurium. These data are part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), pl...
Human induced pluripotent stem cells (hIPSCs) represent a unique opportunity for regenerative medicine since they offer the prospect of generating unlimited quantities of cells for autologous transplantation as a novel treatment for a broad range of disorders. However, the use of hIPSCs in the conte...
ORGANISM(S): Homo sapiens 
Analysis of genomic integrity of disease-corrected human induced pluripotent stem cells by exome sequencing
Analysis 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 ...
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