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ND00008 LCL from B-Lymphocyte

Description:

PARKINSON DISEASE
PD
YOUNG ONSET PARKINSON'S DISEASE; AFFECTED INDIVIDUALS

Affected:

Yes

Sex:

Male

Age:

47 YR (At Sampling)

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

Overview

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Repository NINDS Repository
Subcollection Parkinsonism
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Country of Origin USA
Family History N
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 No Data
Age at Sampling 47 YR
Sex Male
Age of Onset(If not a control) 46 YR
Age at Diagnosis(If not a control) No Data
Hispanic or Latino/Not Hispanic or Latino not yet reported
Racial Category White
Country USA
Diagnosed By No Data
 
Data Elements
Clinical Element Type: Parkinsonism
  (Baseline)
Longitudinal Data
Is this data Longitudinal (Follow-Up) Data? yes  no  
Family History
Family history of parkinsonism present  absent   unknown (subject adopted) 
Specific diagnosis
Parkinsonism clinical diagnosis Parkinson's disease
Progressive Supranuclear Palsy
Diffuse Lewy Body Disease
Multiple System Atrophy
Others
Unaffected primary blood relative of proband
Genetic Data of Subject
Mutation/s in subject's DNA (if present, describe) present  absent  unknown  
Signs suggestive of PD diagnosis
Asymmetric onset present   absent 
Bradykinesis present   absent 
Activation tremor present  absent  
Resting Tremor present   absent 
Postural Instability present  absent  
Rigidity present   absent 
Gait difficulties present  absent  
Response to Anti-Parkinsonism Therapy tried and responsive   inadequate dose  not tried/not given  tested and unresponsive 
Signs suggestive of another diagnosis
history of strokes or stepwise deterioration  No Data
history of head injury with loss of consciousness  No Data
history of encephalitis  No Data
Oculogyric crisis  No Data
neuroleptic treatment at time of symptom onset  No Data
sustained remission  No Data
gaze palsy present  absent  
Cerebellar signs (other than activation tremor)  No Data
Fluctuations  No Data
hallucinations  No Data
dysautonomia  No Data
Memory loss  No Data
axial rigidity  No Data
Other  No Data
Smoking History
smoking history  No Data
years smoking  No Data
Optional data
Mini-mental status score  No Data
Hoehn and Yahr  No Data
UPDRS total motor score  No Data
Handedness  No Data

External Links

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dbSNP dbSNP ID: 20358
NCBI GTR 168600 PARKINSON DISEASE, LATE-ONSET; PD
OMIM 168600 PARKINSON DISEASE, LATE-ONSET; PD
Omim Description PARKINSON DISEASE 1
  PARKINSON DISEASE; PD
  PARKINSONISM
dbGaP Link phs000089
  phs001103

Culture Protocols

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Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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
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Non-profit:
$0.00USD
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How to Order
  • Ordering Instructions
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