National ALS Biorepository Samples Inventory
- 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)|
|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|
|Urine (1.8 ml)||1,062|
|Urine with Hg preservative (4.5 ml)||687|
1 PBMCs – Peripheral blood mononuclear cells Updated as of 05/01/2022
- 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|
|Frozen brain regions||49|
|Frozen spinal cord regions||49|
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|
|Frozen brain and brainstem regions||118|
|Frozen spinal cord regions||112|