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. In collaboration with the Nancy Lurie Marks Family Foundation (NLMFF), SFARI has funded the generation and maintenance of more than 200 iPS cell lines from individuals with either a genetic finding linked to autism or a related neurodevelopmental disorder with many (but not all) of them with a clinical diagnosis of autism. Donors are participants in the SFARI supported human cohorts,the Simons Simplex Collection (SSC) and Simons Searchlight. All iPS cell lines are available for distribution to approved researchers as part of the SFARI resources that can be requested through SFARI Base.

iPSCs from individuals in our human autism cohorts are especially valuable because of the detailed clinical and genetic characterization available for many of the participants. For individuals with deletions or duplications of 16p11.2 (now part of Simons Searchlight) in particular, a large variety of data (neuropsychological, neuroimaging, genetic) is available. These data can also be requested through SFARI Base along with the iPS cell lines.

Below are links to google sheets that list iPSCs that are available or soon to be available (as indicated) upon request through SFARI Base.

Table 1: iPSCs reprogrammed or currently being reprogrammed by the New York Stem Cell Foundation. Availability for request as indicated in column J. iPSC clones derived from the same donor have the same SFARI ID (column A) but different clone # (column B). All iPSCs listed in this table were derived from Peripheral Blood Mononuclear Cells (PBMCs) with Sendai Virus (SV) delivery of reprogramming factors. Only clones that have passed all QC measures are distributed. (QC measures: post-thaw viable cell recovery, mycoplasma, sterility, karyotype, identity match (SNPtrace), pluripotency expression profile (Nanostring pluripotency score card), shutoff of Sendai transgenes (Nanostring gene expression analysis), differentiation capacity (Nanostring 3 germ layer scorecard). Note that for some genes additional iPSCs are available which are listed on the other tables. Also, sex matched familial control lines are or will be available. iPSC lines from first degree relatives share the first five digits of their SFARI ID.

Table 2: iPSCs created by other laboratories or Sampled the biorepository. Only clones that have passed all QC measures are distributed. QC measures: Post thaw viability, sterility, identity check (SNPtrace), alkaline phosphatase expression, FACS for Tra-1-60 and Oct 4, some lines karyotyping. Note, for some of the iPSC lines on table 2, CRISPR corrected isogenic cell lines are or will be available, as indicated in column H.

Table 3: iPSCs from individuals with 16p11.2 deletion or duplication. Donor ID indicated in column A, clone IDs in column B.. In several cases multiple clones or even multiple iPSC lines (created from different source cells or with different reprogramming methods) are available from the same donor. Those clones or cell lines can be distinguished by their clone ID in column B. QC performed is variable, details can be provided upon request.

Table 4: iPSCs from individuals with idiopathic autism (no known genetic cause) and their unaffected family members that participated in the Simons Simplex Collection. QC measures: Post thaw viability, sterility, identity check (SNPtrace), alkaline phosphatase expression, FACS for Tra-1-60 and Oct 4, some lines karyotyping.

Prices are available here.

To submit an order for iPSC lines or to request phenotypic or genetic data linked to individual iPSC lines, please create an account with SFARI Base and follow the steps outlined in the system.

If you have any questions about your SFARI Base account, creation of your request or our resources please send us an email at [email protected].

All iPSC lines are stored at the SFARI biorepository at Sampled. Once iPSCs have been ordered via SFARI Base, Sampled will coordinate shipping and provide protocols for thawing and growing the iPSC lines.

Creation of the iPSC lines listed in Table 1 was co-funded by the Nancy Lurie Marks Family Foundation (NLMFF).

Many individuals from the SSC or Simons Searchlight cohorts had the opportunity to donate blood for the generation of immortal cell lines, including iPS cells. Those blood samples are stored as cryopreserved lymphocytes (CPLs) in the SFARI biorepository at Sampled. The samples present a non-renewable resource, and therefore SFARI does not provide them to individual investigators for the creation of iPS cells.

However, we welcome inquiries to use this resource to create iPS cells through a stem cell lab of SFARI’s choice. Resulting iPSCs would become part of the SFARI biospecimens collection stored at Sampled and would be made available upon request by any qualified researcher.

Researchers can find SSC and some Simons Searchlight participants with variants of interest by using the Genotypes and Phenotypes in Families (GPF) tool. Access to GPF is requested through SFARI Base as outlined here.

It is important to note that not every individual who participated in the SSC or Simons Searchlight donated blood or consented to the creation of iPS cells. The GPF tool lists variants irrespective of blood sample availability or consent status. If you are interested in creating iPS cells from an individual with a specific variant represented in the GPF viewer, please email [email protected]. Our staff can help you determine if the individual you are interested in creating iPS cells for is appropriately consented and if a CPL sample is available.

The creation of such iPS cell lines is at the discretion of SFARI. Depending on the particular circumstances of any request—such as the number of iPS cell lines an investigator may want to create, whether the investigator has funding to work with the lines once established, and SFARI’s overall assessment of the demand for those lines from other researchers, SFARI may cover the cost of creating all or some of such iPSC lines.

Note – GPF also houses data from SPARK. SPARK participants do not donate blood and therefore the type of inquiry described here is only appropriate for participants in the SSC or Simons Searchlight.