ND14143

Overview

Repository

NINDS Repository

Subcollection

Parkinsonism

Quantity

20 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

DNA from LCL

Race

White

Subject Type

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

Family Type

MULTIGENERATIONAL FAMILIES - ONE AFFECTED

Ethnicity

Not Hispanic/Latino

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Characterizations

Gene

GBA

Chromosomal Location

1q21

Allelic Variant 1

606463.0003; GAUCHER DISEASE, TYPE I

Identified Mutation

ASN370SER; By nucleotide sequence analysis of a genomic clone from an Ashkenazi Jewish patient with type I, Tsuji et al. [Proc. Nat. Acad. Sci. 85: 2349-2352 (1988] found a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change resulted in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confirmed that the mutation results in loss of glucocerebrosidase activity. This mutation [1226G (N370S)] accounts for approximately 70% of mutations in the Jewish population.

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

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

20% fetal bovine serum Not Inactivated

Substrate

None specified

Subcultivation Method

dilution - add fresh medium

Supplement

Description:

PARKINSON DISEASE

Affected:

Yes

Gender:

Female

Age:

55 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols