GM06101

GM06101 LCL from B-Lymphocyte

Description:

TUBEROUS SCLEROSIS 2; TSC2
TSC2 GENE; TSC2

Affected:

Yes

Sex:

Female

Age:

26 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Hereditary Cancers

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

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; diagnosed at age 2; mental retardation with IQ of 66; adenoma sebaceum over the nose and cheeks in a butterfly distribution; seizures that began about 6 months of age; numerous, variable sized areas of depigmentation over the legs, arms and back; shagreen patch in midline of upper back; forehead plaque; abnormal EEG at age 7, which showed right fronto temporal and left occipital focal abnormalities; donor subject is heterozygous for a G>A transition at nucleotide 5228 in exon 40 of the TSC2 gene resulting in a substitution of glutamine for arginine at codon 1743 [Arg1743Gln (R1743Q)]; same donor as GM06102 fibroblast.

Characterizations

Gene

TSC2

Chromosomal Location

16p13.3

Allelic Variant 1

R1743Q; TUBEROUS SCLEROSIS, TYPE 2

Identified Mutation

ARG1743GLN

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