GM04837

GM04837 Fibroblast

Description:

HUNTINGTON DISEASE; HD

Affected:

Yes

Sex:

Male

Age:

23 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 173; clinically affected; age of onset 30 yrs; last examined on 2/3/82; affected parents are GM04478 & GM04476; 9 affected sibs & 2 with probable HD; see GM05376A Lymphoid

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

Phenotypic Data

Remarks

Code 173; clinically affected; age of onset 30 yrs; last examined on 2/3/82; affected parents are GM04478 & GM04476; 9 affected sibs & 2 with probable HD; see GM05376A Lymphoid

Publications

Tousley A, Iuliano M, Weisman E, Sapp E, Richardson H, Vodicka P, Alexander J, Aronin N, DiFiglia M, Kegel-Gleason KB, Huntingtin associates with the actin cytoskeleton and a-actinin isoforms to influence stimulus dependent morphology changes PloS one14:e0212337 2018

PubMed ID: 30768638