# Clinical Sample Processing Core

> **NIH NIH P01** · OREGON HEALTH & SCIENCE UNIVERSITY · 2020 · $77,267

## Abstract

Core D Project Summary
The Fanconi anemia repository will support all projects within this PPG by processing and viably
cryopreserving marrow and peripheral blood specimens from patients with Fanconi anemia. In addition to
processing local samples, Core D will coordinate the shipment and receipt of FA marrow samples from outside
collaborating institutions. DNA will be isolated from a portion of the cells for Fanconi anemia subtyping, and the
remaining specimens will be viably cryopreserved for the experiments utilizing primary human samples in
Project 1, 2, and 3. Marrow stromal cells will also be cultured to support investigations in Project 2. All
samples will be labeled with a barcode and entered into our sample database together with clinical annotation
for tracking and retrieval. A multiplexed targeted gene capture panel followed by next generation sequencing
will be utilized to genotype Fanconi anemia patients who have not undergone clinical subtyping. Confirmatory
functional validation assays will be coordinated with Core C as needed for variants of unknown clinical
signficiance. De-identified clinical data will be entered into the sample database per IRB-approved protocol.
Freshly drawn FA blood samples will be rapidly processed, flash frozen, shipped to collaborators for aldehyde
adduct assays. Protein lysates will also be produced from freshly drawn FA samples, frozen, and shipped to
collaborators for mass spectrometry analysis of DNA damage response pathways.

## Key facts

- **NIH application ID:** 9983798
- **Project number:** 5P01HL048546-25
- **Recipient organization:** OREGON HEALTH & SCIENCE UNIVERSITY
- **Principal Investigator:** Myriam Armant
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $77,267
- **Award type:** 5
- **Project period:** — → 2022-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9983798

## Citation

> US National Institutes of Health, RePORTER application 9983798, Clinical Sample Processing Core (5P01HL048546-25). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9983798. Licensed CC0.

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