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GM08297 LCL from B-Lymphocyte

Description:

TUBEROUS SCLEROSIS 2; TSC2

Affected:

No

Sex:

Male

Age:

21 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 Other Disorders of Known Biochemistry
Alternate IDs GM18032 [TUBEROUS SCLEROSIS 2; TSC2]
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 4
Relation to Proband half-brother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically not affected; height, 173 cm; weight; 68 kg; CT scan of brain was normal; ultrasound of kidneys normal; family history of tuberous sclerosis; brother of GM08296 (affected); half-brother of GM08299 (affected); son of GM08584 (unaffected); mutation not found in TSC2 gene

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 not affected; height, 173 cm; weight; 68 kg; CT scan of brain was normal; ultrasound of kidneys normal; family history of tuberous sclerosis; brother of GM08296 (affected); half-brother of GM08299 (affected); son of GM08584 (unaffected); mutation not found in TSC2 gene

Publications

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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
 
Wendt, Genetic counseling for the offspring of a clinically asymptomatic obligate carrier of the tuberous sclerosis gene. Am J Hum Genet37:A138 (1985):105-14 1985
PubMed ID: 2303253

External Links

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dbSNP dbSNP ID: 11098
NCBI GTR 613254 TUBEROUS SCLEROSIS 2; TSC2
OMIM 613254 TUBEROUS SCLEROSIS 2; TSC2

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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How to Order
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