Repository NINDS Repository
Subcollection Control
Quantity 20 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Caucasian
Subject Type spouses
Family Type NUCLEAR FAMILIES - ZERO AFFECTED
Hispanic Ethnicity Not Hispanic/Latino
Country of Origin USA
Family Member 1
Family History N
Relation to Proband husband
Species Homo sapiens
Common Name Human
Remarks Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene.
Remarks Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene.
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
Demographic Data
Relation to Proband husband
Subject Currect Age 74 YR
Gender 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 Caucasian
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
Remark Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene.
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
 
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
 
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
 
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
 
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
No data is available
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
Remarks Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene.