Characterization of human embryonic stem cell lines by the International Stem Cell Initiative
The International Stem Cell Initiative characterized 59 human embryonic stem cell lines from 17 laboratories worldwide. Despite diverse genotypes and different techniques used for derivation and…
Copy number variation and selection during reprogramming to pluripotency
It is shown that significantly more CNVs are present in early-passage human iPS cells than intermediate passage human i PS cells, fibroblast cell origins and with human embryonic stem (ES) cells.
Enterovirus infection in human pancreatic islet cells, islet tropism in vivo and receptor involvement in cultured islet beta cells
The results show a definite islet-cell tropism of enteroviruses in the human pancreas, whereas the identity of receptors used by other enterovIRuses remains unknown.
Screening ethnically diverse human embryonic stem cells identifies a chromosome 20 minimal amplicon conferring growth advantage
Of these genes, BCL2L1 is a strong candidate for driving culture adaptation of ES cells, and single-nucleotide polymorphism analysis revealed that they included representatives of most major ethnic groups.
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease
A new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes is reported.
IL-17 Immunity in Human Type 1 Diabetes
It is demonstrated that IL-17 had detrimental effects on human islet cells in vitro; it potentiated both inflammatory and proapoptotic responses.
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
It is concluded that both over- and underdosage of SOX3 are associated with similar phenotypes, consisting of infundibular hypoplasia and hypopituitarism but not necessarily MR.
Gene Expression Signatures of Seven Individual Human Embryonic Stem Cell Lines
Although the overall gene expression profiles of the seven hESC lines were markedly similar, each line also had a subset of differentially expressed genes reflecting their genetic variation and possibly preferential differentiation potential, illustrating the importance of cross‐validation of results between different ESC lines.
MANF is indispensable for the proliferation and survival of pancreatic beta-cells
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.
The first dominantly inherited SUR1 mutation is described, found within the second nucleotide binding fold of SUR1, that causes CHI in early life and predisposes to later insulin deficiency.