GM08299
LCL from B-Lymphocyte
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 |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
ENGLISH/IRISH
|
|
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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
| |
| Gene |
TSC2 |
| Chromosomal Location |
16p13.3 |
| Allelic Variant 1 |
L823fsX882; TUBEROUS SCLEROSIS, TYPE 2 |
| Identified Mutation |
2468insT |
| Remarks |
Clinically affected; hype; shagreen patches; CT scan of brain revealed multiple ependymal throughout the cerebral ventricular system, consistent with TS; CT of the abdomen showed probable angiomyolipomata in the liver and both kidneys; renal ultrasound showed numerous bilateral echogenic masses throughout both kidneys, most likely representing angiomyolipomas, associated with TS; CT scan of kidneys revealed innumerable low density lesions thought out both kidneys, consistent with angiomyolipomas; MRI of the head showed findings consistent with residual or recurrent tumor in the region of the foramen of Monro (subependymal giant cell astrocytoma); son of GM08584; family history of tuberous sclerosis; daughter of GM08584; half-sister of GM08296 (affected); mother of GM08300 (affected); donor subject has a 1 bp insertion at nucleotide 2468 in exon 21 of the TSC2 gene (2468insT) causing a frameshift (Leu823fsX882) |
| 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 |
| |
| Wendt, Genetic counseling for the offspring of a clinically asymptomatic obligate carrier of the tuberous sclerosis gene. Am J Hum Genet37:A138 (1985):105-14 1985 |
| PubMed ID: 2303253 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|