Amniotic fluid stem cell models: A tool for filling the gaps in knowledge for human genetic diseases

Induced pluripotent stem (iPS) cells have attracted attention in recent years as a model of human genetic diseases. Starting from the diseased somatic cells isolated from an affected patient, iPS cells can be created and subsequently differentiated into various cell types that can be used to gain a better understanding of the disease at a cellular and molecular level. There are limitations of iPS cell generation, however, due to low efficiency, high costs, and lengthy protocols. The use of amniotic fluid stem cells (AFS) presents a worthy alternative as a stem cell source for modeling of human genetic diseases. Prenatal identification of chromosomal or Mendelian diseases may require the collection of amniotic fluid which is not only useful for the sake of diagnosis but also from this, AFS cells can be isolated and cultured. Since AFS cells show some characteristics of pluripotency, having the capacity to differentiate into various cell types derived from all three germ layers in vitro, they are a well-suited model for investigations regarding alterations in the molecular biology of a cell due to a specific genetic disease. This readily accessible source of stem cells can replace the necessity for generating iPS cells. Here, we expand on the applicability and importance of AFS cells as a model for discovery in the field of human genetic disease research. This paper is a review article. Referred literature in this paper has been listed in the references section. The data sets supporting the conclusions of this article are available online by searching various databases, including PubMed. Some original points in this article come from the laboratory practice in our research center and the authors’ experiences.