Description:
TUBEROUS SCLEROSIS 2; TSC2
TSC2 GENE; TSC2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Hereditary Cancers
dbGaP |
| 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
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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 |
| 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. |
| 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 |
|
|