GM04519

GM04519 LCL from B-Lymphocyte

Description:

TUBEROUS SCLEROSIS 2; TSC2
TSC2 GENE; TSC2

Affected:

Yes

Sex:

Female

Age:

15 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Hereditary Cancers
dbGaP

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; seizures since age 4; mild mental retardation; adenoma sebaceum; hypopigmented macules on right flank and right distal thigh; cerebral calcifications on EMI scan; donor subject has a large deletion of exons 1 through 14 in the TSC2 gene resulting in no transcription of the normal TSC2 gene due to the deleted exon 1; polymorphisms in TSC1 include 965T>C, 1335A>G, and 1440C>T; polymorphisms in the TSC2 gene include 4272C>T, 5202T>C, and 5259+72C>T; same donor as GM04520 fibroblast.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

TSC2

Chromosomal Location

16p13.3

Allelic Variant 1

del ex1-14; TUBEROUS SCLEROSIS, TYPE 2

Identified Mutation

DEL EX1-14

Phenotypic Data

Remarks

Publications

Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013

PubMed ID: 23665875

Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R, Domanska-Pakiela D, Kotulska K, Jozwiak S, Kwiatkowski DJ, Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations Human genetics121:389-400 2006

PubMed ID: 17287951