National ALS Biorepository Samples Inventory
Biospecimen
- The National ALS Biorepository stores DNA, RNA, fibroblasts, PBMC’s, plasma, serum, whole blood, and red blood cells from premortem collections.
- All biospecimens are processed using standard procedures and made into standard sized aliquots (see table above) to avoid freeze/thaw cycles.
- Hair and nail clippings are stored at ambient temperature.
- Whole blood, serum, plasma, DNA, RNA, and urine are stored at -80◦.
- PBMCs are stored in an LN2 tank.
- There are biospecimen samples from 1469 participants. These samples include
- 107 C9orf72 participants.
- 3 cases with mutations in SOD1.
Number of participants that donated Premortem Samples by Type*
Sample Types (aliquot size) | Participants (N =1,469) |
---|---|
DNA (2µg) | 1,380 |
RNA (2µg) | 1,157 |
Plasma (.5ml) | 1,207 |
Serum (.5 ml) | 1,200 |
Whole Blood – metals free (1.8 ml) | 1,176 |
Red Blood Cells (1.0 ml) | 1,206 |
Buffy Coat (1.0 ml) | 230 |
PBMCs1 | 126 |
Urine (1.8 ml) | 1,062 |
Urine with Hg preservative (4.5 ml) | 687 |
Hair | 157 |
Nails | 268 |
1 PBMCs – Peripheral blood mononuclear cells Updated as of 05/01/2022
Postmortem
- The National ALS Biorepository collects bone, brain tissue, CSF, human primary cells, muscle, and spinal cord postmortem.
- Several hundred individual samples are frozen and fixed from each donation.
- All postmortem tissues are processed using standard procedures.
- Brain and spinal cord are stored frozen and fixed.
- Bone is stored fixed.
- Muscle is stored in paraffin blocks.
- CSF is stored frozen.
- Fibroblasts are stored in an LN2 tank.
- The 50 donations include:
- 3 C9orf72
- No cases with mutations in SOD1.
- There are 47 confirmed ALS cases.
- There are two not ALS and one inconclusive case.
Number of participants that donated Postmortem Samples by Type*
Sample Type | Participants (N=50) |
---|---|
Fixed brain regions | 50 |
Fixed spinal cord regions | 49 |
Fixed muscle | 48 |
Frozen brain regions | 49 |
Frozen spinal cord regions | 49 |
Frozen CSF1 | 43 |
Frozen muscle | 27 |
1 CSF – Cerebrospinal fluid * Updated as of 05/01/2022
Contact a member of the National ALS Biorepository Team at ALSBioresearch@mcking.com for more information.
Johns Hopkins ALS Postmortem Core Inventory
Funded by the National ALS Registry
- Johns Hopkins collects frozen and fixed CNS tissues, liver, and muscle from ALS/MND and control autopsies.
- Several hundred individual samples are frozen and fixed from each autopsy.
- Goal is to produce the maximum number of individual, optimally sized tissue samples from each ALS-relevant region, while preserving the architecture of the tissue.
- This minimizes subsequent freeze-thaw and labor that otherwise is necessary when re-dissecting frozen slabs or larger tissue regions.
- Standard Operating Procedures for tissue dissection, processing, QC analysis, clinical data elements and neuropathological characterization are optimized specifically to meet the needs of ALS researchers.
- Our 120+ autopsies includes 25 familial ALS decedents
- 15 C9orf72 autopsies
- FTD+ALS cases
- Cases with mutations in SOD1, ALS4 (SETX), SBMA (AR), and others.
- 15 Control autopsies
Number of Autopsies with: | |
---|---|
Fixed brain and brainstem regions | 120 |
Fixed spinal cord regions | 115 |
Fixed muscle | 38* |
Frozen brain and brainstem regions | 118 |
Frozen spinal cord regions | 112 |
Frozen muscle | 42* |
Contact the Core Director, Dr. Lyle Ostrow (Lostrow1@jhmi.edu) or the Core Manager, Dr. Kathleen Wilsbach (kwilsba1@jhmi.edu) for more information.
Page last reviewed: May 11, 2022, 11:50 AM
Content source: Agency for Toxic Substances and Disease Registry