ND02752

Overview

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

Ethnicity

Not Hispanic/Latino

Country of Origin

USA

Family History

Species

Homo sapiens

Common Name

Human

Characterizations

Gene

LRRK2

Chromosomal Location

12q12

Allelic Variant 1

609007.0006; PARKINSON DISEASE 8

Identified Mutation

GLY2019SER; In affected members of 4 of 61 (6.6%) unrelated families with autosomal dominant Parkinson disease (607060), Di Fonzo et al. [Lancet 365: 412-415 (2005)] identified a heterozygous 6055G-A transition in exon 41 of the LRRK2 gene, resulting in a gly2019-to-ser (G2019S) substitution. Two families were from Italy, and one each were from Portugal and Brazil. The gly2019 residue gly2019 residue is part of a highly conserved DFG-like motif (DYG in LRRK2) at the N terminus of the kinase activation segment of the protein. As residues in and around the DFG-like motif are important for proper positioning of magnesium and phosphates, mutations in this area may impair kinase activity.

External Links

dbSNP

dbSNP ID: 21649

Gene Cards

LRRK2

NCBI GTR

168600 PARKINSON DISEASE, LATE-ONSET; PD

609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2

OMIM

168600 PARKINSON DISEASE, LATE-ONSET; PD

609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2

Omim Description

PARKINSON DISEASE 1

PARKINSON DISEASE; PD

PARKINSONISM

dbGaP Link

phs000089

Culture Protocols

Split Ratio (Frequency)

1:3 (4 Days)

Temperature

37 C

Percent CO2

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

Description:

PARKINSON DISEASE
LEUCINE-RICH REPEAT KINASE2; LRRK2
PD

Affected:

Yes

Gender:

Male

Age:

72 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

Description:

PARKINSON DISEASE LEUCINE-RICH REPEAT KINASE2; LRRK2 PD

Affected:

Yes

Gender:

Male

Age:

72 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

PARKINSON DISEASE
LEUCINE-RICH REPEAT KINASE2; LRRK2
PD