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GM04192 Fibroblast

Description:

HUNTINGTON DISEASE; HD

Affected:

No Data

Sex:

Male

Age:

71 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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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 13
Relation to Proband first cousin
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Reduced at risk; mother had HD; see GM04193 Lymphoid

Characterizations

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Passage Frozen 4
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks Reduced at risk; mother had HD; see GM04193 Lymphoid

Publications

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Mazzola JL, Sirover MA, Reduction of glyceraldehyde-3-phosphate dehydrogenase activity in Alzheimer's disease and in Huntington's disease fibroblasts. J Neurochem76(2):442-9 2001
PubMed ID: 11208907
 
Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY, et al, A polymorphic DNA marker genetically linked to Huntington's disease. Nature306:234-8 1983
PubMed ID: 6316146

External Links

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dbSNP dbSNP ID: 16428
Gene Cards HD
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

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Passage Frozen 4
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
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
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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