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ND01220 LCL from B-Lymphocyte

Description:

POPULATION/CONVENIENCE CONTROL
NEUROLOGICALLY NORMAL CAUCASIAN CONTROL PANEL
NEUROLOGICALLY NORMAL CAUCASIAN CONTROL PANEL

Affected:

No

Sex:

Male

Age:

74 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NINDS Repository
Subcollection Control
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Subject Type spouses
Family Type NUCLEAR FAMILIES - ZERO AFFECTED
Ethnicity Not Hispanic/Latino
Country of Origin USA
Family Member 1
Family History N
Relation to Proband husband
Species Homo sapiens
Common Name Human

Characterizations

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Gene LRRK2
Chromosomal Location 12q12
Allelic Variant 1 ; WILDTYPE
Identified Mutation WILDTYPE for GLY2019
 
Gene LRRK2
Chromosomal Location 12q12
Allelic Variant 2 ; WILDTYPE
Identified Mutation WILDTYPE for GLY2019

Phenotypic Data

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Demographic Data
Relation to Proband husband
Age at Sampling 74 YR
Sex Male
Age of Onset(If not a control) No Data
Age at Diagnosis(If not a control) No Data
Hispanic or Latino/Not Hispanic or Latino Not Hispanic/Latino
Racial Category White
Country USA
Diagnosed By No Data
 
Data Elements
Clinical Element Type: Control
  (Baseline)
Data collected by
This data was collected by  No Data
Longitudinal Data
Is this data Longitudinal (Follow-Up) Data? yes  no  
Type of Control
Type of Control  Population control
Medical History
Amyotrophic lateral sclerosis 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  
Memory loss present  absent  
Migraine present  absent  
Multiple sclerosis present  absent  
Muscle disease present  absent  
Obsessive Compulsive  No Data
Parkinson's present  absent  
Schizophrenia present  absent  
Stroke present  absent  
Suicide/Attempt present  absent  
Tourettes  No Data
Other present   absent 
Notes: ESSENTIAL TREMOR
Family History
Amyotrophic lateral sclerosis present  absent  
Ataxia present  absent  
Autism present  absent  
Bipolar (manic-depressive) present   absent 
Notes: SISTER
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  
memory loss present  absent  
Migraine present  absent  
Multiple sclerosis present  absent  
Muscle disease present  absent  
Obsessive Compulsive  No Data
Parkinson's present  absent  
Schizophrenia present  absent  
Stroke present  absent  
Suicide/Attempt present  absent  
Tourettes  No Data
Other present  absent  
Optional data
smoking history never   former smoker  current smoker 
years smoking  No Data
Neurological examination yes  no  
State Examination (MMSE) score  No Data
Handedness  No Data

Publications

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Edwards TL, Scott WK, Almonte C, Burt A, Powell EH, Beecham GW, Wang L, Züchner S, Konidari I, Wang G, Singer C, Nahab F, Scott B, Stajich JM, Pericak-Vance M, Haines J, Vance JM, Martin ER., Genome-Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease Annals of Human Genetics74(2):97-109 2010
PubMed ID: 20070850
 
Matarín M, Brown WM, Scholz S, Simón-Sánchez J, Fung HC, Hernandez D, Gibbs JR, De Vrieze FW, Crews C, Britton A, Langefeld CD, Brott TG, Brown RD, Worrall BB, Frankel M, Silliman S, Case LD, Singleton A, Hardy JA, Rich SS, Meschia JF, A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release Lancet neurology6:414-20 2007
PubMed ID: 17434096
 
Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, Gibbs JR, Lombardo F, Matarin M, Kasperaviciute D, Hernandez DG, Crews C, Bruijn L, Rothstein J, Mora G, Restagno G, Chiò A, Singleton A, Hardy J, Traynor BJ, Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data Lancet neurology6:322-8 2007
PubMed ID: 17362836
 
Fung HC, Scholz S, Matarin M, Simón-Sánchez J, Hernandez D, Britton A, Gibbs JR, Langefeld C, Stiegert ML, Schymick J, Okun MS, Mandel RJ, Fernandez HH, Foote KD, Rodríguez RL, Peckham E, De Vrieze FW, Gwinn-Hardy K, Hardy JA, Singleton A, Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data Lancet neurology5:911-6 2006
PubMed ID: 17052657
 
Li Y, Rowland C, Schrodi S, Laird W, Tacey K, Ross D, Leong D, Catanese J, Sninsky J, Grupe A, A case-control association study of the 12 single-nucleotide polymorphisms implicated in Parkinson disease by a recent genome scan American journal of human genetics78:1090-2; author reply 1092-4 2006
PubMed ID: 16685663

External Links

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dbSNP dbSNP ID: 15747
dbGaP Link phs000089
  phs000101.v5.p1
  phs000102

Culture Protocols

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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:
$0.00USD
Academic &
Non-profit:
$0.00USD
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How to Order
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