Neural precursors, neurons and glial cells, as well as brain organoids, derived from human induced pluripotent stem cells (iPSCs) and embryonic stem cells (ESCs) have become valuable models in autism spectrum disorder (ASD) research, complementing research studies in animal models. All iPSC lines created from individuals who participated in the Simons Simplex Collection (SSC) and Simons Searchlight are available for distribution to approved researchers as part of the SFARI resources that can be requested through SFARI Base.
We believe the iPSCs from individuals in the Simons collections are especially valuable because many participants received detailed clinical and genetic characterization. For individuals with deletions or duplications of 16p11.2 who participated in Simons VIP Phase I (now part of Simons Searchlight) in particular, a large variety of data (neuropsychological, neuroimaging, genetic) is available. A summary of the data available across individuals in Simons Searchlight can be found here, and the data can be requested through SFARI Base.
iPSC lines that are currently available to order through SFARI Base are summarized in Table 1. This table will be updated as new iPSC lines become available.
SFARI is now collaborating with the Nancy Lurie Marks Family Foundation (NLMFF) to create iPSCs from ~100 Simons Searchlight participants within the next year. We expect the first 30 iPSC lines resulting from this collaboration to become available in Spring 2021.
Table 1. Available iPSC lines. This table summarizes available iPSC lines by genetic finding (genetic event), Simons cohort and ASD diagnosis.
| Genetic event | Simons cohort | ASD diagnosis? | Number of donors for whom lines are available | Source cell type | Labs that generated iPSCs | References |
|---|---|---|---|---|---|---|
| N/A | SSC | Yes | 2 | Fibroblasts | Flora Vaccarino | Mariani et al.1 |
| N/A | SSC | No | 3 | Fibroblasts | Flora Vaccarino | Mariani et al.1 |
| 16p11.2 duplication | Simons Searchlight | No | 5 | Fibroblasts | Ricardo Dolmetsch or Lauren Weiss | Deshpande et al.2 |
| 16p11.2 deletion | Simons Searchlight | Yes / No | 14 | Fibroblasts, erythroblasts or CD4+ lymphocytes | Ricardo Dolmetsch or Lauren Weiss or NYSCF or RUCDR | Deshpande et al.2 |
| PPP2R5D multiple variants | Simons Searchlight | Available upon request | 5 | PBMCs* | NYSCF | |
| Corrected PPP2R5D | Simons Searchlight | Available upon request | 1 | CRISPR correction of one variant from above in iPSCs | NYSCF |
* PBMCs = peripheral blood mononuclear cells
Ordering Instructions:
If you are interested in ordering iPSC lines listed in Table 1 and require more technical information (e.g., source cell type, reprogramming method or number of available clones), you can email iPSC@SFARI.org with the subject line “SFARI collection iPSCs.” To submit an order for iPSC lines or to request phenotypic or genetic data linked to individual iPSC lines, please follow the ordering instructions below.
Aliquots of all iPSC lines are stored at the SFARI biorepository at Infinite Biologics. Prices are available here. Quality control data are available for most of the lines upon request.
To order:
2) Review the Researcher Distribution Agreement and sign the joinder agreement.
3) Upload an institutional review board approval or exemption letter for your project in SFARI Base.
4) Submit your request for iPSCs, data or both.