GM04797

GM04797 Fibroblast

Description:

HUNTINGTON DISEASE; HD

Affected:

No Data

Sex:

Female

Age:

48 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 425; unaffected; last examined on 3/27/81; affected sibs are GM04799, 05621Z, & 05613Z; see GM04796 Lymphoid

Characterizations

PDL at Freeze

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

Phenotypic Data

Remarks

Code 425; unaffected; last examined on 3/27/81; affected sibs are GM04799, 05621Z, & 05613Z; see GM04796 Lymphoid

External Links

dbSNP

dbSNP ID: 18178

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

Culture Protocols

Cumulative PDL at Freeze

9.5

Passage Frozen

Split Ratio

1:3

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not inactivated

Substrate

None specified

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD