Generation and characterization of induced pluripotent stem (iPS) cell line (SDUCTi001-A) using fibroblasts derived from male-healthy donor.

Induced pluripotent stem (iPS) cell lines have wide valuable applications in experimental research, including developmental, pathological, and drug screening studies. Using integration-free episomal plasmids, we have generated a new iPS cell line from a 26-year-old healthy male donor. Characterization of the established cell line confirmed the expression of pluripotency markers, differentiation into the three germ layers, and absence of chromosomal abnormalities.

Derivation of induced pluripotent stem cells (SDUKIi003-A) from a 20-year-old male patient diagnosed with Asperger syndrome.

Autism spectrum disorder is a heterogenous neurodevelopmental disorder. The patients experience challenges in social interaction and communication skills as well as restricted and/or repetitive behaviors. To understand the molecular mechanisms underlying developmental brain disorders, patient-derived cellular models represent a useful tool. We have generated a human induced pluripotent stem cell line (SDUKIi003-A) from skin fibroblasts derived from a 20-year old male patient diagnosed with Asperger syndrome ("FYNEN-cohort" of Southern Denmark). The reprogramming of the fibroblasts was accomplished using integration-free episomal plasmids. Characterization validated the expression of pluripotency markers, differentiation into the three germ layers, and absence of chromosomal abnormalities.

Epigenetics and cerebral organoids: promising directions in autism spectrum disorders.

Autism spectrum disorders (ASD) affect 1 in 68 children in the US according to the Centers for Disease Control and Prevention (CDC). It is characterized by impairments in social interactions and communication, restrictive and repetitive patterns of behaviors, and interests. Owing to disease complexity, only a limited number of treatment options are available mainly for children that alleviate but do not cure the debilitating symptoms. Studies confirm a genetic link, but environmental factors, such as medications, toxins, and maternal infection during pregnancy, as well as birth complications also play a role. Some studies indicate a set of candidate genes with different DNA methylation profiles in ASD compared to healthy individuals. Thus epigenetic alterations could help bridging the gene-environment gap in deciphering the underlying neurobiology of autism. However, epigenome-wide association studies (EWAS) have mainly included a very limited number of postmortem brain samples. Hence, cellular models mimicking brain development in vitro will be of great importance to study the critical epigenetic alterations and when they might happen. This review will give an overview of the state of the art concerning knowledge on epigenetic changes in autism and how new, cutting edge expertise based on three-dimensional (3D) stem cell technology models (brain organoids) can contribute in elucidating the multiple aspects of disease mechanisms.