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 1,647 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 =1,647) Aliquots (N =83,480)
DNA (2µg) 1,535 26,865**
RNA (2µg) 1,253 10,193
Plasma (.5ml) 1,372 8,644
Serum (.5 ml) 1,353 7,552
Whole Blood – metals free (1.8 ml) 1,346 3,393
Red Blood Cells (1.0 ml) 1,379 4,318
Buffy Coat (1.0 ml) 263 267
PBMCs1 287 6,074
Urine (1.8 ml) 1,062 14,934**
Urine with preservative (4.5 ml) 687 690
Hair 157 241
Nails 268 268

1 PBMCs – Peripheral blood mononuclear cells                  * Updated as of 02/29/24              **May include the stock aliquots and unprocessed samples.



  • 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 52 donations include:
    • 6 C9orf72
    • No cases with mutations in SOD1.
    • There are 47 confirmed ALS cases.
    • There are two not ALS and one inconclusive case.
    • There is one case pending processing.

Number of participants that donated Postmortem Samples by Type*

Sample Type Participants (N =52)
Fixed brain regions 52
Fixed spinal cord regions 51
Fixed muscle 50
Frozen brain regions 51
Frozen spinal cord regions 51
Frozen CSF1 45
Frozen muscle 29
Bone 52
Fibroblasts 29

1CSF – Cerebrospinal fluid                 * Updated as of 02/29/24

Contact a member of the National ALS Biorepository Team at for more information.

Temple University ALS Postmortem Core

Funded by the National ALS Registry

  • Includes  frozen and fixed CNS tissuesliver, and several muscles from ALS/MND and non-neurologic control autopsies. A limited number of other tissues (sural/sciatic nerve, GI tract, skin, etc.) are also available.
  • Standard Operating Procedures for tissue dissection, processing, QC analysis, clinical data elements, and neuropathological characterization are specifically optimized to meet the needs of ALS researchers.
  • Our dissection method produces 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, and produces several hundred specimens from each autopsy.
  • 95 autopsies, including 19 familial ALS decedents
    • 11 C9orf72 and 5 SOD1
    • 10 with FTD+ALS
    • Cases with mutations in SOD1, ALS4 (SETX), SBMA (AR), and others.
    • 13 Control autopsies

Number of participants that donated Postmortem Samples by Type*

Number of Autopsies with:
Fixed brain regions 89
Fixed spinal cord regions 85
Fixed muscle 64*
Frozen brain and brainstem regions 86
Frozen spinal cord regions 84
Frozen muscle 56*

*Multiple muscles are usually collected per autopsy, so the number of different individual muscles is considerably higher.


Contact the Core Director, Dr. Lyle Ostrow ( or the Core Manager, Dr. Kathleen Wilsbach ( for more information.