NA02164

NA02164 DNA from LCL

Description:

HUNTINGTON DISEASE; HD

Affected:

Yes

Sex:

Male

Age:

58 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of the Nervous System

Class

Disorders with Trinucleotide Expansions

Quantity

25 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

DNA from LCL

Race

White

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

ISCN

46,XY

Species

Homo sapiens

Common Name

Human

Remarks

Mother & sister were also affected; onset at age 46; see GM02165A Fibroblast; 46,XY

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis

Phenotypic Data

Remarks

Mother & sister were also affected; onset at age 46; see GM02165A Fibroblast; 46,XY

Publications

Ruiz Buendía GA, Leleu M, Marzetta F, Vanzan L, Tan JY, Ythier V, Randall EL, Marques AC, Baubec T, Murr R, Xenarios I, Dion V, Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion Science advances6:eaaz4012 2019

PubMed ID: 32656337

External Links

dbSNP

dbSNP ID: 18361

Gene Cards

HD (verified)

Gene Ontology

GO:0003714 transcription corepressor activity

GO:0005215 transporter activity

GO:0005515 protein binding

GO:0005625 soluble fraction

GO:0005634 nucleus

GO:0005737 cytoplasm

GO:0006915 apoptosis

GO:0006917 induction of apoptosis

GO:0007610 behavior

GO:0008017 microtubule binding

GO:0009405 pathogenesis

GO:0009887 organogenesis

NCBI Gene

Gene ID:3064

NCBI GTR

143100 HUNTINGTON DISEASE; HD

OMIM

143100 HUNTINGTON DISEASE; HD

Omim Description

HUNTINGTON CHOREAHUNTINGTIN, INCLUDED

HUNTINGTON DISEASE; HD

Images

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pedigree

Pricing

Commercial/For-profit:

$225.00USD

Academic/Non-profit/Government:

$113.00USD