Overview

Collection	NINDS Repository
Subcollection	Parkinsonism
Sample Description	PARKINSON'S DISEASE PD YOUNG ONSET PARKINSON'S PANEL: CAUCASIAN SUBJECTS FROM NORTH AMERICA YOUNG ONSET PARKINSON'S PANEL; AFFECTED INDIVIDUALS
This Sample Is Also in Other Products	NDPT087 [YOUNG ONSET PARKINSON'S PANEL: CAUCASIAN SUBJECTS FROM NORTH AMERICA]
Biopsy Source	Peripheral vein
Cell Type	B-Lymphocyte
Tissue Type	Blood
Transformant	Epstein-Barr Virus
Species	Homo sapiens
Common Name	Human
Age At Sampling	34 YR
Sex	Female
Race	Caucasian
Subject Type	parent/child discordant pair
Family Type	NUCLEAR FAMILIES - ONE AFFECTED
Country of Origin	USA
Family	NINDS0004 View Pedigree
Family Member	1
Family History	N
Relation to Proband	proband
Clinically Affected	Yes
Remarks	Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene.
Catalog ID	ND00007
Product	Cell Culture
Pricing	Commercial Pricing: $500.00 Academic and not-for-profit pricing: $250.00
Catalog ID	ND00007
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 PD YOUNG ONSET PARKINSON'S PANEL: CAUCASIAN SUBJECTS FROM NORTH AMERICA YOUNG ONSET PARKINSON'S PANEL; AFFECTED INDIVIDUALS
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	194, 246
D22S417	193, 197
D5S592	170, 178
FES/FPS	228, 228
THO-1	163, 175
VWA31	153, 161

Phenotypic Data

Demographic Data
Relation to Proband	proband
Subject Currect Age	34 YR
Gender	Female
Age of Onset(If not a control)	32 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	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
Remark	Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene.

Publications

Data are not available

External Links

dbSNP	dbSNP ID: 23196
OMIM	168600 PARKINSON DISEASE 1
Omim Description	PARKINSON DISEASE 1
	PARKINSON DISEASE; PD
	PARKINSONISM
dbGaP Link	phs000003.v1.p1

Images

View

pedigree

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
Substrate	None specified
Subcultivation Method	dilution - add fresh medium