GM04858

GM04858 LCL from B-Lymphocyte

Description:

HUNTINGTON DISEASE; HD

Affected:

No Data

Sex:

Male

Age:

20 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

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Family Member

Relation to Proband

maternal cousin

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Code 178; unaffected; last examined on 4/2/81; affected parents are GM04479A & GM04477B; 10 affected sibs & 2 with probable HD; see GM04859 Fibroblast. Investigators ordering this cell line may, after receiving the culture, tender a request in writing for the available CAG repeat data for this individual.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

IDENTIFICATION OF SPECIES OF ORIGIN

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

IDENTIFICATION OF SPECIES OF ORIGIN

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

Phenotypic Data

Remarks

Publications

Wexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, Shackell E, Marder K, Penchaszadeh G, Roberts SA, Gayan J, Brocklebank D, Cherny SS, Cardon LR, Gray J, Dlouhy SR, Wiktorski S, Hodes ME, Conneally PM, Penney JB, Gusella J, Cha JH, Irizarry M, Rosas D, Hersch S, Hollingsworth Z, MacDonald M, Young AB, Andresen JM, Housman DE, De Young MM, Bonilla E, Stillings T, Negrette A, Snodgrass SR, Martinez-Jaurrieta MD, Ramos-Arroyo MA, Bickham J, Ramos JS, Marshall F, Shoulson I, Rey GJ, Feigin A, Arnheim N, Acevedo-Cruz A, Acosta L, Alvir J, Fischbeck K, Thompson LM, Young A, Dure L, O'Brien CJ, Paulsen J, Brickman A, Krch D, Peery S, Hogarth P, Higgins DS Jr, Landwehrmeyer B; U.S.-Venezuela Collaborative Research Project, Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A101(10):3498-503 2004

PubMed ID: 14993615

Holbert S, Dedeoglu A, Humbert S, Saudou F, Ferrante RJ, Néri C, Cdc42-interacting protein 4 binds to huntingtin: neuropathologic and biological evidence for a role in Huntington's disease Proceedings of the National Academy of Sciences of the United States of America100:2712-7 2003

PubMed ID: 12604778