Description:
PARKINSON DISEASE
PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES
PARKINSON'S PANEL: CAUCASIAN FROM THE UNITED STATES
PD
Repository
|
NINDS Repository
|
Subcollection |
Parkinsonism |
Quantity |
3 µg |
Quantitation Method |
Please see our FAQ |
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
|
case-spouse
|
Family Type
|
NUCLEAR FAMILIES - ONE AFFECTED
|
Ethnicity
|
Not Hispanic/Latino
|
Country of Origin
|
USA
|
Family Member
|
1
|
Family History
|
Y
|
Relation to Proband
|
proband
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
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 |
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 |
|
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 |
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 |
- |
|
|