GM01085

GM01085 Fibroblast

Description:

HUNTINGTON DISEASE; HD

Affected:

Yes

Sex:

Male

Age:

44 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of the Nervous System

Class

Disorders with Trinucleotide Expansions

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Family Member

Family History

Relation to Proband

proband

Confirmation

Clinical summary/Case history

ISCN

47,XY,t(1;3)(3qter->3q?21::1p?32->1qter; 3pter->3q?21::1p?32->1pter),+20[8]/46,XY[12]

Species

Homo sapiens

Common Name

Human

Remarks

Affected mother and grandmother; moderate ataxia, chorea, dysarthria, and dysphagia; see GM03644 Lymphoid; onset at age 35

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

Phenotypic Data

Remarks

Affected mother and grandmother; moderate ataxia, chorea, dysarthria, and dysphagia; see GM03644 Lymphoid; onset at age 35

Publications

Etcheberrigaray E, Gibson GE, Alkon DL, Molecular mechanisms of memory and the pathophysiology of Alzheimer's disease. Ann N Y Acad Sci747:245-55 1994

PubMed ID: 7847674

Ito E, Oka K, Etcheberrigaray R, Nelson TJ, McPhie DL, Tofel-Grehl B, Gibson GE, Alkon DL, Internal Ca2+ mobilization is altered in fibroblasts from patients with Alzheimer disease. Proc Natl Acad Sci U S A91:534-8 1994

PubMed ID: 8290560

Etcheberrigaray R, Ito E, Oka K, Tofel-Grehl B, Gibson GE, Alkon DL, Potassium channel dysfunction in fibroblasts identifies patients with Alzheimer disease. Proc Natl Acad Sci U S A90:8209-13 1993

PubMed ID: 8367484

Chua CC, Geiman DE, Ladda RL, Detection of an Mr 200,000 glycoprotein in the culture medium of skin fibroblasts from patients with Huntington disease. Biochem Biophys Res Commun111:690-9 1983

PubMed ID: 6220707

Scudiero DA, Meyer SA, Clatterbuck BE, Tarone RE, Robbins JH, Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in fibroblasts from patients with Huntington disease, familial dysautonomia, and other primary neuronal degenerations. Proc Natl Acad Sci U S A78:6451-5 1981

PubMed ID: 6458814

Gray PN, May PC, Mundy L, Elkins J, L-Glutamate toxicity in Huntington's disease fibroblasts. Biochem Biophys Res Commun95:707-14 1980

PubMed ID: 6448048

Hung WY, Mold DE, Tourian A, Huntington's-chorea fibroblasts. Cellular protein glycosylation. Biochem J190:711-9 1980

PubMed ID: 6451218

Brown, Two-dimensional analysis of radiolabeled proteins in cultured Huntington's Disease fibroblasts. Adv Neurol23:361 (1979):711-9 1979

PubMed ID: 6451218

Gray PN, Dana SL, GABA synthesis by cultured fibroblasts obtained from persons with Huntington's disease. J Neurochem33:985-92 1979

PubMed ID: 159344