Resources: Biospecimens

Biospecimens from participants in SFARI-supported autism research cohorts, including the Simons Simplex Collection (SSC), Simons Searchlight and the Autism Inpatient Collection (AIC), as well as the tissue bank Autism BrainNet (ABN), are accessible to approved researchers. Available biospecimens include induced pluripotent stem cells (iPSCs), peripheral blood mononuclear cells (PBMCs), DNA, plasma and lymphoblastoid cell lines (LCLs).

These biospecimens are especially valuable because they can be linked to the extensive genetic and phenotypic data available for participants in the cohorts, enabling researchers to integrate biological samples with detailed participant-level data. Biospecimens and associated datasets are available to approved researchers through SFARI Base.

Induced pluripotent stem cells (iPSCs)

iPSC lines derived from participants with genetic findings linked to autism or related neurodevelopmental disorders are available. Participants are enrolled in SSC or Simons Searchlight. The collection includes lines from more than 300 individuals across 39 genetic conditions linked to autism and related neurodevelopmental disorders, as well as familial controls and some isogenic control lines.

In collaboration with the Nancy Lurie Marks Family Foundation, SFARI has supported the generation, ongoing maintenance, quality control and distribution of these lines to approved researchers. Support for the creation of additional iPSCs is in development, and updates will be announced when available.

View the iPSC inventory in SFARI Base

Peripheral blood mononuclear cells (PBMCs)

PBMCs provide researchers with access to participant-derived cells and may be used to generate iPSCs. Currently, PBMCs are available from SSC and Simons Searchlight participants, and they will be made available from AIC participants in the future.

View the PBMC inventory in SFARI Base

Researchers interested in suggesting a targeted blood collection from a Simons Searchlight participant for whom PBMCs or iPSCs are not currently available may submit the SFARI/Searchlight Gene Interest for Blood Collection Form.

DNA

DNA samples from some participants in Simons Searchlight, SSC and AIC, and from ABN donors, are available. These samples are derived from whole blood or saliva, and availability varies by cohort and participant.

Plasma

Plasma samples collected from a subset of participants in SSC and Simons Searchlight are available and may be useful for studies examining biomarkers or other biological measures.

Lymphoblastoid cell lines (LCLs)

LCLs derived from participants in SSC and Simons Searchlight are available. These renewable cell resources can support a variety of cellular, molecular and genetic studies.

SFARI makes biospecimens from SFARI-supported cohorts available to approved researchers. Biospecimen availability varies by cohort, participant and sample type. Researchers can explore currently available biospecimens and submit a request through SFARI Base.

Available biospecimens can be explored through SFARI Base, including inventories for iPSCs, PBMCs and other available sample types.

To request biospecimens, the principal investigator should submit a resource request. Requests are reviewed to confirm that the proposed use is consistent with applicable participant consent and other resource-specific requirements.

For questions about biospecimen availability, identifying appropriate samples or submitting a request, contact the SFARI Data and Biospecimen Repository (SDBR) at [email protected].

Biospecimen fees, shipping and other applicable distribution costs are invoiced separately from the SFARI Base request process.

Following approval of a biospecimen request, the biorepository will contact the investigator to coordinate sample distribution, shipping and invoicing. Shipping costs depend on the sample type, destination, shipping method and courier and therefore cannot generally be estimated until a request has been approved and shipment details are known.

Domestic shipments

For domestic shipments of frozen cell lines, researchers may have the option to select shipment on dry ice or in a liquid nitrogen (LN2) dry vapor shipper, depending on the sample type.

For iPSCs, both options may be provided in the shipping quote. LN2 shipping generally provides greater temperature stability throughout transit and may therefore offer greater protection against temperature excursions or shipping delays. Neither shipping method guarantees sample viability or successful growth following receipt.

International shipments

International shipments of iPSCs and PBMCs require an LN2 dry vapor shipper.

These shipments are typically coordinated through a specialty courier. International shipping costs vary considerably depending on the destination and shipment requirements and may exceed $1,000 – $5,000+.

Subject to approval by the biorepository, researchers outside the United States may be able to use an institutional specialty courier or shipping account. Available courier options depend on the destination and shipment requirements.

SFARI cannot guarantee the viability, successful growth or experimental performance of distributed biospecimens. Sample characteristics, handling, shipping conditions, laboratory procedures and other factors may affect performance after distribution.

SFARI is generally unable to cover the cost of replacement samples or associated shipping expenses.

iPSCs

SFARI iPSC lines undergo quality-control testing that may include sterility/mycoplasma testing, assessment of pluripotency, karyotyping and other characterization. Completion of quality-control testing does not guarantee successful recovery, growth or experimental performance following distribution.

Growth and handling requirements vary among SFARI iPSC lines. Researchers must follow the protocol provided for the specific line.

LCLs and fibroblasts

SFARI cannot guarantee the successful recovery or growth of distributed LCLs or fibroblasts. Researchers should follow the applicable growth and handling protocols provided with the samples.

PBMCs

SFARI cannot guarantee PBMC quality, viability following thaw, or subsequent reprogramming or experimental success. Viability information at the time of freezing may not be available for individual samples.

Questions about SFARI biospecimens can be directed to SDBR at [email protected].