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)
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


  • 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 for more information.

Johns Hopkins ALS Postmortem Core Inventory

Funded by the National ALS Registry

  • Johns Hopkins collects frozen and fixed CNS tissuesliver, 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 ( or the Core Manager, Dr. Kathleen Wilsbach ( for more information.

Page last reviewed: May 11, 2022, 11:50 AM