NA06188

NA06188 DNA from LCL

Description:

TUBEROUS SCLEROSIS 2; TSC2
TSC2 GENE; TSC2

Affected:

Yes

Sex:

Male

Age:

15 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Hereditary Cancers

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

Race

White

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; seizures; mitral valve prolapse diagnosed via echocardiogram; skull x-ray noted periventricular calcifications; donor subject is heterozygous for a C>T transition at nucleotide 1831 in exon 16 of the TSC2 gene [1831C>T] resulting in a substitution of tryptophan for arginine at codon 611 [Arg611Trp (R611W)]; son of GM06194.

Characterizations

Gene

TSC2

Chromosomal Location

16p13.3

Allelic Variant 1

R611W; TUBEROUS SCLEROSIS, TYPE 2

Identified Mutation

ARG611TRP

Phenotypic Data

Remarks

Publications

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