Description:
TUBEROUS SCLEROSIS 2; TSC2
TSC2 GENE; TSC2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Other Disorders of Known Biochemistry |
| 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
|
|
Family Member
|
26
|
|
Relation to Proband
|
in-law
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically normal spouse of GM09339; member of a four generation family [family TS-15 in Smith et al. Genomics 6:105-114 (1990)] with 24 cases of tuberous sclerosis, some with only a mild form of the disease. |
| 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 |
|
|