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NA09431 DNA from LCL

Description:

TUBEROUS SCLEROSIS 2; TSC2
TSC2 GENE; TSC2

Affected:

No

Sex:

Female

Age:

No Data

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Hereditary Cancers
Class Other Disorders of Known Biochemistry
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
Family Member 2
Relation to Proband spouse
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically normal spouse of GM09432; spouse & 2 children are affected; member of a four generation family [family TS-15 in Smith et al. Genomics 6:105-114 (1990)] with 24 cases of tuberous sclerosis, some with only a mild form of the disease.

Characterizations

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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 Clinically normal spouse of GM09432; spouse & 2 children are affected; member of a four generation family [family TS-15 in Smith et al. Genomics 6:105-114 (1990)] with 24 cases of tuberous sclerosis, some with only a mild form of the disease.

Publications

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Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H, Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States Genetics in medicine : official journal of the American College of Medical Genetics9:88-100 2007
PubMed ID: 17304050
 
Smith M, Smalley S, Cantor R, Pandolfo M, Gomez MI, Baumann R, Flodman P, Yoshiyama K, Nakamura Y, Julier C, et al, Mapping of a gene determining tuberous sclerosis to human chromosome 11q14-11q23. Genomics6(1):105-14 1990
PubMed ID: 2303253

External Links

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dbSNP dbSNP ID: 18188
Gene Cards TSC2
Gene Ontology GO:0005096 GTPase activator activity
GO:0005624 membrane fraction
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006457 protein folding
GO:0006897 endocytosis
GO:0008151 cell growth and/or maintenance
GO:0045786 negative regulation of cell cycle
GO:0051082 unfolded protein binding
NCBI Gene Gene ID:7249
NCBI GTR 191092 TSC COMPLEX SUBUNIT 2; TSC2
613254 TUBEROUS SCLEROSIS 2; TSC2
OMIM 191092 TSC COMPLEX SUBUNIT 2; TSC2
613254 TUBEROUS SCLEROSIS 2; TSC2
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
  • Ordering Instructions
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