Overview

Collection	NINDS Repository
Subcollection	Parkinsonism
Sample Description	PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES
This Sample Is Also in Other Products	NDPT083 [PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES]
Biopsy Source	Peripheral vein
Cell Type	B-Lymphocyte
Tissue Type	Blood
Transformant	Epstein-Barr Virus
Species	Homo sapiens
Common Name	Human
Age At Sampling	73 YR
Sex	Male
Race	Caucasian
Country of Origin	USA
Family History	Y
Clinically Affected	Yes
Remarks	Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene.
Catalog ID	ND00003
Product	Cell Culture
Pricing	Commercial Pricing: $500.00 Academic and not-for-profit pricing: $250.00
Catalog ID	ND00003
Product	DNA
Quantity	50 µg
Source	cell culture
Pricing	Commercial Pricing: $200.00 Academic and not-for-profit pricing: $100.00
How to Order	Online Ordering Assurance Form (Must have current form on file) Statement of Research Intent Form (Information will be entered electronically when order is placed. DO NOT fax form to Coriell Customer Service)

Characterizations

Sample Description	PARKINSON'S DISEASE PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES
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
DNA Profile
D10S526	246, 254
D22S417	173, 177
D5S592	178, 182
FES/FPS	220, 224
THO-1	175, 175
VWA31	153, 153

Phenotypic Data

Demographic Data
Relation to Proband	No Data
Subject Currect Age	73 YR
Gender	Male
Age of Onset(If not a control)	66 YR
Age at Diagnosis(If not a control)	No Data
Hispanic or Latino/Not Hispanic or Latino	not yet reported
Racial Category	Caucasian
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
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	present  absent
history of head injury with loss of consciousness	present  absent
history of encephalitis	present  absent
Oculogyric crisis	present  absent
neuroleptic treatment at time of symptom onset	present  absent
sustained remission	present  absent
gaze palsy	present  absent
cerebellar signs (other than activation tremor)	present  absent
fluctuations	No Data
hallucinations	No Data
dysautonomia	present  absent
memory loss	No Data
axial rigidity	No Data
Other	present  absent
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
Remark	Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene.

Publications

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 Genetics: 2010

PubMed ID: 20070850

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

External Links

dbSNP	dbSNP ID: 19725
OMIM	168600 PARKINSON DISEASE 1
Omim Description	PARKINSON DISEASE 1
	PARKINSON DISEASE; PD
	PARKINSONISM
dbGaP Link	phs000003.v1.p1
	phs000089.v1.p1

Images

Data are not available

Culture Protocols

Split Ratio	1:3
Temperature	37 C
Percent CO2	5%
Percent O2	AMBIENT
Medium	Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine
Serum	15% fetal bovine serum Not Inactivated
Subcultivation Method	dilution - add fresh medium