ND01938
LCL from B-Lymphocyte
Description:
ASYMPTOMATIC OR UNDIAGNOSED AND GENETICALLY RELATED TO AN AFFECTED INDIVIDUAL
NEUROLOGICALLY NORMAL CAUCASIAN CONTROL PANEL
NEUROLOGICALLY NORMAL CAUCASIAN CONTROL PANEL
|
Repository
|
NINDS Repository
|
| Subcollection |
Cerebrovascular Disease
Parkinsonism |
|
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
|
2
|
|
Family History
|
N
|
|
Relation to Proband
|
spouse
|
|
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 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
- |
|
|