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GM04736 LCL from B-Lymphocyte

Description:

HUNTINGTON DISEASE; HD

Affected:

No Data

Sex:

Male

Age:

64 YR (At Sampling)

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

Overview

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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 86
Relation to Proband maternal cousin
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Code 560; unaffected; last examined on 3/23/81; son of GM04790A; aff spouse is GM04818B; affected daughter is GM04722A; see GM04735 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

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks Code 560; unaffected; last examined on 3/23/81; son of GM04790A; aff spouse is GM04818B; affected daughter is GM04722A; see GM04735 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.

Publications

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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
 
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: 10754
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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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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How to Order
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