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GM02152 LCL from B-Lymphocyte

Description:

HUNTINGTON DISEASE; HD
APPARENTLY HEALTHY INDIVIDUAL

Affected:

No

Sex:

Female

Age:

40 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images
  • 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
Alternate IDs GM18006 [HUNTINGTON DISEASE; HD]
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 2
Relation to Proband spouse
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically normal widow of affected husband; proband not in Repository; see GM02153 Fibroblast

Characterizations

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

Phenotypic Data

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Remarks Clinically normal widow of affected husband; proband not in Repository; see GM02153 Fibroblast

Publications

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Rivolta C, McGee TL, Frio TR, Jensen RV, Berson EL, Dryja TP, Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations Human mutation27:644-53 2006
PubMed ID: 16708387

External Links

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dbSNP dbSNP ID: 17467
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

Images

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View pedigree 

Culture Protocols

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Split Ratio 1:4
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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