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SDS Cell Biobank Pilot Project a success!

After the successful launch of the mouse model project last year and advancing it to phase two this year, we have expanded our efforts to develop additional critical research tools to enable the development of therapies and cures for SDS. These projects are part of our focus to develop research tools and infrastructure as outlined in our roadmap.

One such effort is the SDS Cell Biobank, designed to enable researchers fast, easy, and affordable access to SDS patient-derived cells and cell lines – no matter where the researchers or patients are in the world. A biobank is a collection of biological samples (such as blood or cell lines derived from blood cells) and health information for research purposes. Up until now, there was no public biobank for SDS patient samples, and access to such samples was difficult and slow for researchers who are not affiliated with research institutions that see SDS patients regularly.

To address this critical need, we partnered with the Coriell Institute and launched a pilot program to bank and distribute Shwachman-Diamond Syndrome (SDS) patient-derived cell lines, globally.

The Coriell institute is an independent, non-profit biomedical research center dedicated to the study of the human genome, and features programs in biobanking, personalized medicine, cell biology, cytogenetics, genotyping, and induced pluripotent stem cell science. What is particularly exciting about this collaboration is not only their exceptional quality standard but their experience and focus on the distribution of samples.

The SDS Cell Biobank pilot program was a complete success. Patients can consent and submit their medical records and blood samples. The blood sample can be obtained as part of their routine care, without the need for an extra needle stick, using a kit and return shipping label provided by the Coriell Institute. The Coriell Institute processes the cells from the blood sample into a renewable cell line (see below), and adds it to their public catalog online, complete with all the de-identified relevant information about the sample. Researchers are now able to order the cells quickly and easily.

Our focus currently is on “renewable” cell lines. That is, patients, donate their sample only once, and Coriell creates cell lines that can be expanded and distributed indefinitely or to as many researchers as requested. As part of the pilot project, currently available products include Lymphoblastoid Cell Lines (LCLs). Coming soon are Fibroblasts and iPSCs. The iPSCs are part of a separate project announced earlier, here.

We are happy to report that shortly after the first sample became available, researchers from both a pharmaceutical company and an academic institution ordered, received, and started using the SDS samples. None of them would have been able to access such samples easily otherwise, as they were not previously invested in the SDS community. Both have confirmed to us that without easy access to samples, they would not be able to evaluate whether their technologies have a possible benefit for SDS patients. With the samples, however, they can make a quick evaluation and consider developing larger programs to benefit our patients. More on these projects, soon. ~ Dr. Eszter Hars, President and CEO, SDS Alliance

Due to the success of this pilot program, we are planning to expand this effort starting early next year.

  • If you are an SDS patient or a close family member and would like to participate, please email us at All patients and their parents and siblings are invited to donate a blood sample (and optionally a skin biopsy sample to bank fibroblasts). We can coordinate international donations as well.

  • If you are a researcher interested in samples, please email us at and we will connect you with any resources you may need. The samples at Coriell are available immediately. International shipping is available.

Thank you to all the patients who participated in the pilot, and the researchers who jumped at the opportunity to get involved in SDS research and therapy development. Together, we can create a bright future for SDS patients worldwide.

About the Coriell Institute and the NIGMS Human Genetic Cell Repository

The Coriell Institute for Medical Research is an independent, non-profit biomedical research center dedicated to the study of the human genome. Coriell features programs in biobanking, personalized medicine, cell biology, cytogenetics, genotyping, and induced pluripotent stem cell science. More information at and Wikipedia.

The NIGMS Human Genetic Cell Repository, sponsored by the National Institute of General Medical Sciences, provides scientists around the world with resources for cell and genetic research. Established in 1972 at the Coriell Institute for Medical Research, the NIGMS Repository contains more than 11,800 cell lines, primarily fibroblasts and transformed lymphoblasts, and more than 5,900 DNA samples. Currently, the NIGMS HGCR catalog also contains over 85 iPSC lines.

Repository samples represent a variety of disease states, chromosomal abnormalities, apparently healthy individuals, and many distinct human populations. These samples comprise over 1,100 different OMIM diagnoses, and have been referenced in over 6,900 scientific publications. More information at


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