Kutatási eszközök és adatok

Kutatási eszközök (antitestek, sejtvonalak, modellszervezetek, szövetminták stb.)

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mouse model icon representing resources offered by the Shwachman-Diamond Syndrome Alliance SDS Alliance

Mouse Models for SDS

We have an active collaboration with The Jackson Laboratory to develop a humanized mouse model that includes the human SBDS gene with the most common, 258+2T>C "splice site" mutation. The mice are expected to be available to order from the Jackson Laboratory in Q3-Q4 of 2023. Please contact us at connect@SDSAlliance for details.

More information at Mouse model development launched, meet the development team, phase 1 complete

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SDS Cell Biobank

We have established a cell biobank at the Coriell Institute to collect and distribute patient-derived cell lines. Currently, they have LCLs, and we hope to add fibroblast this year as well. Please contact us at connect@SDSAlliance for details.

More information at SDS Cell Biobank pilot complete, SDS Cell Biobank launched (soon)

Fibroblast

Patient-derived fibroblasts are available from our collaborators at the NIH. Please contact us at connect@SDSAlliance for details.

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iPSCs:

We launched an iPSC development project in late 2022 to develop three iPSC cell lines in collaboration with the Coriell Institute and the UPenn Orphan Disease Center. The first line is expected to be available in Q3 2023. Additionally, we are working on developing isogenic pairs, which will become available in late 2023. Please contact us at connect@SDSAlliance for details.

More information at iPSCs development launched

Data

Our survey platform is slated to launch in Q3-4 2023 and we are very interested in collaborations. We are also in close contact with many international clinical registries and would be happy to make introductions. Please reach out to us at connect@SDSAlliance.org.