GM04775

GM04775 Fibroblast

Description:

HUNTINGTON DISEASE; HD

Affected:

No

Sex:

Female

Age:

46 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

cousin

Confirmation

Clinical summary/Case history

ISCN

46,XX,t(1;11)(q21;p15)[8]/46,XX[12].arr 1q25.3q31.2(181376800-193597041)x2 hmz,2q35q36.1(218678882-224138570)x2 hmz,3p22.2p14.3938811632-55936122)x2 hmz,3q13.31q24(116791022-147370273)x2 hmz,11p15.1p14.2(17567370-26504501)x2 hmz,13q13.3q14.13(39838906-46500295)x2 hmz

Species

Homo sapiens

Common Name

Human

Remarks

Code 588; unaffected spouse of GM04779; affected children are GM04691 & GM06440Z

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

Phenotypic Data

Remarks

Code 588; unaffected spouse of GM04779; affected children are GM04691 & GM06440Z

Publications

Sumbilla C, Lakowicz JR, Evidence for normal fibroblast cell membranes from individuals with Huntington's disease. A fluorescence probe study. J Neurol Sci62:23-40 1983

PubMed ID: 6230415