| Category | Count | % of Total |
|---|---|---|
| Total PBMC Samples | 42 | 100% |
| iPSC Lines Established | 8 | 19% |
| KAT6A Samples | 28 | 66.7% |
| KAT6B Samples | 14 | 33.3% |
KAT6 Foundation Biorepository Report
PBMC and iPSC Sample Collection Overview
1 Summary
This report provides an overview of the KAT6 Biorepository located at the CReM/Serrano Lab, which houses peripheral blood mononuclear cell (PBMC) samples and induced pluripotent stem cell (iPSC) lines from individuals with KAT6A and KAT6B syndrome. These samples, generously donated by families in the KAT6 community, are the foundation for advancing our understanding of these rare epigenetic disorders.
Biorepository at a Glance
Total Donors: 42 families have contributed to this biorepository
PBMC Samples: 42 samples available for research
iPSC Lines: 8 patient-derived iPSC lines established
Collection Period: 2022 - 2025
2 Sample Inventory Overview
2.1 Total Sample Collection
Each sample represents a family’s hope for advancing research into these rare conditions.
2.2 Distribution by Gene
The biorepository includes samples from individuals with both KAT6A and KAT6B syndrome.
3 Demographic Profile
Understanding the demographic composition of our biorepository helps ensure our research represents the diversity of the KAT6 community.
3.1 Sex Distribution
| Gene | Female | Male | Total | Male:Female Ratio |
|---|---|---|---|---|
| KAT6A | 7 | 21 | 28 | 3:1 |
| KAT6B | 7 | 7 | 14 | 1:1 |
3.2 Age Distribution
The majority of our donors are children and adolescents. We are grateful for the participation of donors across all age groups.
| Gene | 0-10 | 11-20 | 31-40 | 21-30 | Total |
|---|---|---|---|---|---|
| KAT6A | 17 | 9 | 2 | 0 | 28 |
| KAT6B | 9 | 3 | 0 | 2 | 14 |
3.3 Racial and Ethnic Identity
Our biorepository includes contributions from families of diverse backgrounds. We are committed to ensuring that research benefits all communities affected by KAT6 syndrome.
| Racial Ethnic Identity | KAT6A | KAT6B | Total |
|---|---|---|---|
| White | 18 | 10 | 28 |
| Prefer not to say | 3 | 2 | 5 |
| Hispanic or Latino | 2 | 1 | 3 |
| Multiracial/Biracial | 3 | 0 | 3 |
| Black or African American | 1 | 0 | 1 |
| Native Hawaiian or Other Pacific Islander | 1 | 0 | 1 |
| Asian | 0 | 1 | 1 |
4 iPSC Line Status
Induced pluripotent stem cell (iPSC) lines are invaluable resources that allow us to study KAT6 syndrome in the laboratory using cells that carry each donor’s unique genetic background. These cell lines can be differentiated into various cell types including neurons and heart cells to understand how KAT6 pathogenic variants affect development.
| Variant ID | Gene | Sex | Age Group | Racial/Ethnic Identity | Year Collected |
|---|---|---|---|---|---|
| A10 | KAT6A | Male | 11-20 | Prefer not to say | 2022 |
| A11 | KAT6A | Male | 11-20 | White | 2022 |
| A3 | KAT6A | Male | 11-20 | Black or African American | 2023 |
| A8 | KAT6A | Female | 0-10 | Multiracial/Biracial | 2022 |
| B2 | KAT6B | Female | 0-10 | Prefer not to say | 2023 |
| B4 | KAT6B | Female | 0-10 | White | 2023 |
| B5 | KAT6B | Male | 0-10 | White | 2023 |
| B8 | KAT6B | Female | 21-30 | White | 2024 |
5 Collection Timeline
The biorepository has grown steadily since its establishment in 2022.
| Year | KAT6A | KAT6B | Total |
|---|---|---|---|
| 2022 | 10 | 1 | 11 |
| 2023 | 5 | 4 | 9 |
| 2024 | 3 | 7 | 10 |
| 2025 | 10 | 2 | 12 |
6 Complete Biobank Inventory
| Variant ID | Gene | Sex | Age Group | Racial/Ethnic Identity | Year Collected | iPSC Line | Sample Type |
|---|---|---|---|---|---|---|---|
| A1 | KAT6A | Male | 0-10 | White | 2023 | No | PBMC |
| A10 | KAT6A | Male | 11-20 | Prefer not to say | 2022 | Yes | PBMC |
| A11 | KAT6A | Male | 11-20 | White | 2022 | Yes | PBMC |
| A12 | KAT6A | Male | 0-10 | Multiracial/Biracial | 2022 | No | PBMC |
| A13 | KAT6A | Female | 11-20 | Prefer not to say | 2022 | No | PBMC |
| A14 | KAT6A | Male | 11-20 | White | 2023 | No | PBMC |
| A15 | KAT6A | Male | 0-10 | White | 2023 | No | PBMC |
| A16 | KAT6A | Female | 31-40 | White | 2024 | No | PBMC |
| A17 | KAT6A | Male | 31-40 | White | 2024 | No | PBMC |
| A18 | KAT6A | Male | 0-10 | White | 2024 | No | PBMC |
| A19 | KAT6A | Male | 0-10 | Prefer not to say | 2025 | No | PBMC |
| A2 | KAT6A | Male | 0-10 | White | 2023 | No | PBMC |
| A20 | KAT6A | Male | 0-10 | Hispanic or Latino | 2025 | No | PBMC |
| A21 | KAT6A | Male | 0-10 | White | 2025 | No | PBMC |
| A22 | KAT6A | Male | 0-10 | White | 2025 | No | PBMC |
| A23 | KAT6A | Female | 0-10 | White | 2025 | No | PBMC |
| A24 | KAT6A | Female | 11-20 | White | 2025 | No | PBMC |
| A25 | KAT6A | Male | 11-20 | White | 2025 | No | PBMC |
| A26 | KAT6A | Male | 0-10 | Hispanic or Latino | 2025 | No | PBMC |
| A27 | KAT6A | Male | 0-10 | White | 2025 | No | PBMC |
| A28 | KAT6A | Male | 11-20 | Native Hawaiian or Other Pacific Islander | 2025 | No | PBMC |
| A3 | KAT6A | Male | 11-20 | Black or African American | 2023 | Yes | PBMC |
| A4 | KAT6A | Female | 11-20 | White | 2022 | No | PBMC |
| A5 | KAT6A | Female | 0-10 | White | 2022 | No | PBMC |
| A6 | KAT6A | Male | 0-10 | White | 2022 | No | PBMC |
| A7 | KAT6A | Male | 0-10 | Multiracial/Biracial | 2022 | No | PBMC |
| A8 | KAT6A | Female | 0-10 | Multiracial/Biracial | 2022 | Yes | PBMC |
| A9 | KAT6A | Male | 0-10 | White | 2022 | No | PBMC |
| B1 | KAT6B | Male | 11-20 | White | 2023 | No | PBMC |
| B10 | KAT6B | Female | 21-30 | Prefer not to say | 2024 | No | PBMC |
| B11 | KAT6B | Female | 0-10 | White | 2024 | No | PBMC |
| B12 | KAT6B | Female | 0-10 | White | 2024 | No | PBMC |
| B13 | KAT6B | Male | 0-10 | White | 2025 | No | PBMC |
| B14 | KAT6B | Male | 0-10 | Asian | 2025 | No | PBMC |
| B2 | KAT6B | Female | 0-10 | Prefer not to say | 2023 | Yes | PBMC |
| B3 | KAT6B | Male | 11-20 | White | 2022 | No | PBMC |
| B4 | KAT6B | Female | 0-10 | White | 2023 | Yes | PBMC |
| B5 | KAT6B | Male | 0-10 | White | 2023 | Yes | PBMC |
| B6 | KAT6B | Male | 0-10 | White | 2024 | No | PBMC |
| B7 | KAT6B | Female | 0-10 | White | 2024 | No | PBMC |
| B8 | KAT6B | Female | 21-30 | White | 2024 | Yes | PBMC |
| B9 | KAT6B | Male | 11-20 | Hispanic or Latino | 2024 | No | PBMC |
7 Summary Statistics Dashboard
8 Acknowledgments
Thank You to Our Donor Families
This biorepository exists because of the generosity and commitment of 42 families in the KAT6 community.
Your contributions are advancing science and bringing us closer to better outcomes for all individuals affected by KAT6 syndrome.
Report Generated: November 28, 2025
Contact: Serrano Laboratory, Boston University Center for Regenerative Medicine
Data Source: KAT6 Foundation Biorepository Database (February 2025)
This report was prepared for the KAT6 Foundation to provide families and stakeholders with an overview of the biorepository resources available for research.