GM04478

GM04478 Fibroblast

Description:

HUNTINGTON DISEASE; HD

Affected:

Yes

Sex:

Female

Age:

51 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Venezuelan Huntington Disease
Heritable Diseases

Class

Disorders of the Nervous System

Class

Disorders with Trinucleotide Expansions

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Family Member

Relation to Proband

maternal cousin

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Code 9; clinically affected; age of onset 37 years; affected sibs are GM04887 and GM04877; 10 affected children and 2 with probable HD; see GM04479 Lymphoid

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

Phenotypic Data

Remarks

Code 9; clinically affected; age of onset 37 years; affected sibs are GM04887 and GM04877; 10 affected children and 2 with probable HD; see GM04479 Lymphoid