Generation of an Induced Pluripotent Stem Cell Resource from Individuals with Genetically Defined Forms of Autism Spectrum Disorders in the SFARI Cohorts

The Simons Foundation Autism Research Initiative (SFARI) and the Nancy Lurie Marks Family Foundation (NLMFF) have joined efforts to generate induced pluripotent stem cells (iPSCs) from blood samples of participants in Simons Searchlight. SFARI and NLMFF intend to generate iPSCs from 100 individuals over the next year. They plan to possibly generate another 100 iPSCs during a second year of the collaboration. iPSCs will be generated by the New York Stem Cell Foundation (NYSCF) and stored in the SFARI biorepository at Infinite Biologics. Samples will be available for request by researchers worldwide through SFARI Base for a nominal fee.

The first batch of about 30 iPSC lines is estimated to be available in early 2021. It will include lines from individuals with genetic variants in six high-confidence autism risk genes (DYRK1A, GRIN2B, HNRNPH2, SCN2A, SETBP1 and SYNGAP1). SFARI currently estimates that batches of ~ 30–50 iPSC lines will become available every three months, following the first batch. These new iPSC lines will complement the existing SFARI collection of iPSCs that have been previously generated from Simons Simplex Collection and Simons Searchlight participants.

With the advent of high-throughput methods that enable well-controlled, quantitative analysis on a large number of samples in parallel¹, iPSCs derived from individuals with genetic changes have become valuable tools for biomedical research. This is especially important for studying developmental brain conditions, where access to tissue of the ‘affected’ organ, the brain, is only possible postmortem.

Due to the remarkable progress in technologies, iPSCs can be differentiated into many different cell types, including neurons and glia^2-5, or grown into brain organoids⁶. By creating a centralized iPSC resource, SFARI and the NLMFF hope to reduce some of the experimental variability introduced when using iPSCs from different providers and often created by using different somatic source cell types or reprogramming methods.

By centralizing the generation of iPSCs derived from Simons Searchlight participants, SFARI and NLMFF will save researchers time and money and will create a technically homogenous resource intended to accelerate research progress. The extensive clinical and phenotypic data associated with the iPSCs lines will also be available through SFARI Base. To stay up-to-date on readily available iPSCs, please visit SFARI iPS cell models resource page.