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GM09373 LCL from B-Lymphocyte

Description:

TUBEROUS SCLEROSIS 2; TSC2
TSC2 GENE; TSC2

Affected:

Yes

Sex:

Female

Age:

55 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
Hereditary Cancers
Class Other Disorders of Known Biochemistry
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XX
Species Homo sapiens
Common Name Human
Remarks Affected grandmother, father, brother, 3 daughters, & 2 grandchildren; angiofibroma, periungual fibromas, ash leaf spots, & major seizure disorder; daughter of GM09375; 46,XX; donor subject has a 4 bp deletion at nucleotide 3693 in exon 30 of the TSC2 gene (3693delGTCT) causing a frameshift and premature termination (Leu1231fsX1323)

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 and by Chromosome Analysis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.
 
Gene TSC2
Chromosomal Location 16p13.3
Allelic Variant 1 L1231fsX1323; TUBEROUS SCLEROSIS, TYPE 2
Identified Mutation c.3693_3696delGTCT

Phenotypic Data

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Remarks Affected grandmother, father, brother, 3 daughters, & 2 grandchildren; angiofibroma, periungual fibromas, ash leaf spots, & major seizure disorder; daughter of GM09375; 46,XX; donor subject has a 4 bp deletion at nucleotide 3693 in exon 30 of the TSC2 gene (3693delGTCT) causing a frameshift and premature termination (Leu1231fsX1323)

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: 11253
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

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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