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iPS cell models

Neural stem cell culture. Fluorescent light micrograph of groups of neural stem cells (neurospheres) in culture. Neural stem cells are able to differentiate into neurons (nerve cells) or support cells (glial cells). They are a potential source of cells to replace damaged or lost brain cells.

Neuronal precursors and neurons derived from human induced pluripotent stem cells (iPSCs) have become a valuable model in autism 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.’

We believe the iPSCs from individuals in the Simons collections are especially valuable because all participants were subject to a detailed clinical and genetic characterization, and their phenotypic and genetic data are available to all approved researchers studying autism spectrum disorders.

Currently, iPSC lines for 5 SSC (2 probands, 3 family member controls) and 13 Simons Searchlight participants are available. The cause of autism in the 2 SSC participants was undefined (idiopathic)1(Table 1) at the time the lines were generated. For the Simons Searchlight, iPSC lines were created for individuals carrying either the copy number duplication or deletion of the chromosomal region 16p11.2 (Table 2). We will update this list as more lines become available.

Because no generally accepted standard for the creation of iPSCs exists, the Simons Foundation Autism Research Initiative (SFARI) has collaborated with RUCDR Infinite Biologics (formerly Rutgers University Cell and DNA Repository) and the New York Stem Cell Foundation (NYSCF) to better understand the sources of variability among iPSC lines generated from varying source cells with different re-programming methods. The aim is to identify a combination that is best suited for the differentiation of human neurons. RUCDR and NYSCF created lines from the same three Simons Searchlight participants, using fibroblasts, erythroblasts or lymphocytes and different re-programming methods (episomal plasmids, Sendai virus or modified RNAs) (Table 2). We will update our website as new results from this study become available.

Table 1. iPSC lines available from the SSC

Genetic eventASD diagnosisNumber of donors for whom lines are availableLabs that generated iPSCsSource cellsReferences
N/AYes2Flora VaccarinofibroblastsMariana et al.1
N/ANo3Flora VaccarinofibroblastsMariana et al.1

Table 2. iPSC lines available from Simons Searchlight

Genetic eventASD DiagnosisNumber of donors for whom lines are availableLabs that generated iPSCsSource cellsReferences
16p11.2 duplicationNo3Ricardo Dolmetschfibroblastsunpublished
16p11.2 deletionNo7Ricardo Dolmetschfibroblastsunpublished
16p11.2 deletionYes3RUCDR and NYSCFfibroblasts, erythroblasts or CD4+ lymphocytesunpublished

A spreadsheet with detailed information about all available lines is available for download here.

Ordering Instructions:

Aliquots of all lines are stored at the SFARI biorepository at RUCDR. Prices are available here.
Quality control data are available for some of the lines upon request.

To order, register with SFARI Base: click here for detailed registration instructions.
Please direct all questions about ordering to collections@sfari.org.

Note: Please carefully review the Researcher Distribution Agreement and sign the joinder agreement. In addition, institutional review board approval or exemption is needed for all planned studies with iPSC lines.

 

Current and past SFARI-funded projects that created and/or characterized iPSCs

In addition to the creation of lines from the SSC and Simons Searchlight, SFARI has supported multiple investigators to create iPSC lines from individuals with an autism diagnosis and a defined genetic event linked to that diagnosis. More recently, we have also funded the generation of iPSC lines in which a genetic mutation that is linked to autism has been introduced with CRISPR/CAS9 gene editing.

Current and past SFARI-funded grants involving iPSC studies are listed below. More information about the availability of these lines will be available on our website in the coming months.

 

References

1.Mariani J. et al. Cell 162, 375-90 (2015) PubMed
2.Tai D.J. et al. Nat. Neurosci. 19, 517-522 (2016) PubMed
3.Li Y. et al. Cell Stem Cell 13, 446-458 (2013) PubMed
4.Muffat J. et al. Nat. Med. 22, 1358-1367 (2016) PubMed
5.Yoon K.J. et al. Cell Stem Cell 15, 79-91 (2014) PubMed
6.Rooney G.E. et al. J. Neurosci. 36, 142-152 (2016) PubMed
7.Yeh E. et al. Mol. Psychiatry 23, 1687-1698 (2018) PubMed
8.Deshpande A. et al. Cell Rep. 21, 2678-2687 (2017) PubMed
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