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   IPS CELL LINES AVAILABLE

Patient-derived iPSC Lines for research (in progress)

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GABRB2 :  c.896 T>G,   p.I299S (plus isogenic control)

GABRB2:   c.737 T>C,   p.I246T (plus isogenic control)​

GABRG1:  c.316 G>A,  p.A106T (plus isogenic control)

GABRA1:  c.869_888del, p.Val290fs (plus isogenic control)

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Contact info@gabaa.org for inquiries

         Combined Brain Biobank Project

Interested in participating in biomarker research? COMBINEDBrain is a non-profit consortium of over 60 patient advocacy groups for rare, genetic neurodevelopmental disorders. They recognize the need to collect patient samples for researchers to identify biomarkers to be used to treat /develop treatments for our children. They are on a mission to collect ~500 samples from our member organizations over the next 6-8 months and GABA-A Alliance, along with our patient support groups, is one of them. Samples collected from our community will be stored and available to researchers across the world.

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Are you or one of your family members interested in participating in this exciting project for GABA-A related disorders?

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Here are the basics:

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Who: Any participant diagnosed with an GABA-A-related disorder or unaffected sibling.

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What: COMBINEDBrain will be collecting urine samples and blood samples (processed for plasma and a finger stick) to be stored in the COMBINEDBrain Biorepository and available for select biomarker projects as well as other interested researchers. They will also collect several online surveys to be completed by caregivers.

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Where: COMBINEDBrain is collecting samples all across the United States this year. Please see the list below of locations to find the closest biorepository collection to you. You may attend ANY of these meetings

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Sample Size: Our goal is to collect 5-10 samples from each patient group

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How: Contact GABA-A Alliance (email info@gabaa.org) to further determine eligibility and the best way and location to participate.

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2025 Collection Dates

Info@gabaa.org

EIN: 92-3923437

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GABA-A Alliance is a 501(c)3 tax-exempt organization and your donation is tax-deductible within the guidelines of U.S. law.  Please keep your email donation receipt as your official record. We’ll send it to you upon successful completion of your donation.

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