ND08917

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

Subject Type

family with at least 3 members, including 1 proband, not a trio

Family Type

NUCLEAR FAMILIES - ONE AFFECTED

Ethnicity

Not Hispanic/Latino

Ethnicity

ASHKENAZI JEWISH

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

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.

Gene

PARK2

Chromosomal Location

6q25.2-q27

Allelic Variant 1

602544.0011; PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE

Identified Mutation

ALA82GLU; See 602544.0010 and Hedrich et al. (2001).

Gene

PARK2

Chromosomal Location

6q25.2-q27

Allelic Variant 2

602544.0022; PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE

Identified Mutation

EX5-6 DEL; See 602544.0021 and Deng et al. (2006).

External Links

NCBI GTR

168600 PARKINSON DISEASE, LATE-ONSET; PD

OMIM

168600 PARKINSON DISEASE, LATE-ONSET; PD

Omim Description

PARKINSON DISEASE 1

PARKINSON DISEASE; PD

PARKINSONISM

Images

View

pedigree

Culture Protocols

Split Ratio (Frequency)

1:2 (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

Affected:

Yes

Gender:

Male

Age:

51 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Images

Culture Protocols