Coriell Institute for Medical Research
Coriell Institute of Medical Research
  • Request a Quote
  • Donate
  • Login
  • View Cart
Sample Catalog | Custom Services | Core Facilities | Genomic Data Search
  • Biobank
    • NIGMS
    • NINDS
    • NIA
    • NHGRI
    • NEI
    • Allen Cell Collection
    • Rett Syndrome iPSC Collection
    • Autism Research Resource
    • HD Community Biorepository
    • CDC Cell and DNA
    • J. Craig Venter Institute
    • Orphan Disease Center Collection
    • All Biobanks
  • Research
    • Overview
    • Meet Our Scientists
      • Our Faculty
      • Our Scientific Staff
    • Camden Cancer Research Center
    • Epigenetic Therapies SPORE
    • Core Facilities
    • Epigenomics
    • Camden Opioid Research Initiative (CORI)
    • The Issa & Jelinek Lab
    • The Jian Huang Lab
    • The Luke Chen Lab
      • The Lab
      • The Team
      • Publications
    • The Scheinfeldt Lab
    • The Shumei Song Lab
    • The Nora Engel Lab
      • The Lab
      • The Team
      • Publications
    • Publications
  • Services
    • Overview
    • Biobanking Services
      • Core Services
      • Project Management
      • Research Support Services
      • Sample Cataloging
      • Sample Collection Kits
      • Sample Data Management
      • Sample Distribution
      • Sample Management
      • Sample Procurement
      • Sample Storage
    • Bioinformatics and Biostatistics Services
    • Cellular and Molecular Services
      • Biomarker Research Solutions
      • Cell Culture
      • Nucleic Acid Isolation and Quality Control
    • Clinical Trial Support
      • Overview
      • Sample Collection
      • Data Management
      • Sample Processing and QC
      • Storage and Distribution
      • Biomarker Services
      • Data Analaysis
    • Core Facilties
      • Overview
      • Animal and Xenograft
      • Bioinformatics and Biostatistics
      • Cell Imaging
      • CRISPR Gene Engineering
      • Flow Cytometry and Cell Sorting
      • Genomics and Epigenomics
      • iPSC - Induced Pluripotent Stem Cells
      • Organoids
    • Coriell Marketplace
    • Genomic, Epigenomic and Multiomics Services
    • Stem Cells and iPSC Services
      • Core Services
      • Reprogramming
      • Characterization and Quality Control
      • Differentiated Cell Lines
      • iPSC-Derived Organoids
      • iPSC Expansion
      • iPSC Gene Editing
  • Ordering
    • Stem Cells
    • Cell Lines
    • DNA and RNA
    • Featured Products
      • FFPE
      • HMW DNA
    • Genomic Data Search
    • Search by Catalog ID
    • Help
      • Create Account
      • Order Online
      • Ordering FAQ
      • FAQs/Culture Instructions
      • Reference Materials
        • Biobanks
        • NIGMS Repository
        • NHGRI Repository
        • NINDS Repository
        • NIA Repository
        • NIST
        • GeT-RM
      • Secondary Distribution Policies
      • MTA Assurance Form
      • Shipment Policy
      • Contact Customer Service
  • About Us
    • Our History
    • Meet Our Team
    • Meet Our Board
    • Education
      • Science Fair
      • Summer Experience
      • Outreach
      • Research Program Internship
    • Press Room
      • Press Releases
      • Coriell Blog
      • Annual Report
    • Careers
      • Working at Coriell
    • Giving
      • Donate
      • Giving FAQ
    • Contact Us
    • Legal Notice
  • Login View Cart
search submit
ND12736 DNA from LCL

Description:

AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
ALS PANEL; UPPER-LIMB ONSET; DEFINITE AND PROBABLE
ALS PANEL; UPPER-LIMB ONSET; DEFINITE AND PROBABLE ALS

Affected:

Yes

Sex:

Male

Age:

47 YR (At Sampling)

  • Overview
  • Phenotypic Data
  • Publications
  • External Links

Overview

back to top
Repository NINDS Repository
Subcollection Motor Neuron Disease
Quantity 20 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity Not Hispanic/Latino
Country of Origin USA
Family History N
Species Homo sapiens
Common Name Human

Phenotypic Data

back to top
Demographic Data
Relation to Proband No Data
Age at Sampling 47 YR
Sex Male
Age of Onset(If not a control) 45 YR
Age at Diagnosis(If not a control) 47 YR
Hispanic or Latino/Not Hispanic or Latino Not Hispanic/Latino
Racial Category White
Country USA
Diagnosed By No Data
 
Data Elements
Clinical Element Type: Motor Neuron Disorders
  (Baseline)
Longitudinal Data
Is this data Longitudinal (Follow-Up) Data? yes  no  
Family History
ALS/other MND present  absent   unknown 
Parkinson's disease present  absent   unknown 
Alzheimer's disease present  absent   unknown 
Other dementia present  absent   unknown 
Other neurodegenerative disease present  absent   unknown 
Medical History
Alzheimer's disease present  absent  
Ataxia present  absent  
Autism present  absent  
Bipolar (manic-depressive) present  absent  
Brain aneurysm present  absent  
Cancer present  absent  
Dementia Alzheimer's
Dementia
absent
Depression present   absent 
Diabetes present  absent  
Dystonia present  absent  
Epilepsy present  absent  
Heart disease present  absent  
Hypertension present  absent  
Multiple sclerosis present  absent  
Muscle disease present  absent  
Parkinson's present  absent  
Schizophrenia present  absent  
Suicide/Attempt present  absent  
Stroke present  absent  
Primary Clinical Diagnosis
Primary clinical diagnosis  ALS
Secondary Neurological Diagnosis
Secondary neurological diagnoses Frontotemporal dementia
Other (specify)
Not Applicable
Site of Symptom Onset
site of symptom onset  Limb-upper
Treatment
Current treatment Riluzole
PEG
NIPPV
Tracheotomy
Assisted Ventilation > 23 hours
Other (specify)
No Treatment
Signs Supporting Diagnosis
Upper Motor Neuron Signs-Bulbar definite   indeterminate  absent  not tested 
Upper Motor Neuron Signs-Cervical/upper limbs definite   indeterminate  absent  not tested 
Upper Motor Neuron Signs-Thoracic/chest definite  indeterminate  absent  not tested  
Upper Motor Neuron Signs-Lumbosacral/lower limbs definite   indeterminate  absent  not tested 
Lower Motor Neuron Signs-Bulbar definite   indeterminate  absent  not tested 
Lower Motor Neuron Signs-Cervical/upper limbs definite   indeterminate  absent  not tested 
Lower Motor Neuron Signs-Thoracic/chest definite  indeterminate  absent  not tested  
Lower Motor Neuron Signs-Lumbosacral/lower limbs definite   indeterminate  absent  not tested 
EMG Studies
Bulbar acute denervation  chronic denervation  negative  not examined   acute/chronic denervation 
Cervical/upper limbs acute denervation  chronic denervation  negative  not examined  acute/chronic denervation  
Thoracic/chest acute denervation  chronic denervation  negative  not examined   acute/chronic denervation 
Lumbosacral/lower limbs acute denervation  chronic denervation  negative  not examined   acute/chronic denervation 
Genetics
SOD-1 mutation  No Data
Other mutation  No Data
Atypical Features of ALS/MND
Atypical features of ALS/MND sensory
autonomic
cerebellar
cognitive
Parkinsonian
sphincter
ocular
other
Optional data
Current ALSFRS-R  No Data
FVC  No Data
smoking history never  former smoker  current smoker  
years smoking  36 YEARS
Handedness Right   Left  Ambidextrous 

Publications

back to top
Abramzon Y, Johnson JO, Scholz SW, Taylor JP, Brunetti M, Calvo A, Mandrioli J, Benatar M, Mora G, Restagno G, Chiò A, Traynor BJ, Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis Neurobiology of aging33:2231.e1-6 2012
PubMed ID: 22572540

External Links

back to top
NCBI GTR 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
OMIM 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
Omim Description ALS
  AMYOTROPHIC LATERAL SCLEROSIS
  AMYOTROPHIC LATERAL SCLEROSIS, TYPE 1; ALS1
dbGaP Link phs000101.v5.p1

Culture Protocols

back to top
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
Commercial and Non-U.S.:
$0.00USD
U.S. Academic or
Non-profit:
$0.00USD
NINDS Repository Submitter (past or current) and/or Current NINDS Grantee
$0.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Subject
  • ND12736 - B-Lymphocyte
DNA Panels
  • NDPT103

Our mission is to prevent and cure disease through biomedical research.

CONTACT US

CUSTOMER SERVICE
customerservice@coriell.org (800) 752-3805 • (856) 757-4848
Subscribe to our newsletter here

Coriell Institute for Medical Research
403 Haddon Avenue Camden, NJ 08103, USA (856) 966-7377

Ⓒ 2025 Coriell Institute. All rights reserved.

  • Facebook
  • Linkedin
  • Youtube