GM08300
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
|
Family Member
|
2
|
Relation to Proband
|
son
|
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 |
TSC2 |
Chromosomal Location |
16p13.3 |
Allelic Variant 1 |
L823fsX882; TUBEROUS SCLEROSIS, TYPE 2 |
Identified Mutation |
2468insT |
Remarks |
Clinically affected; seizures at age 3 mo; at age 2 yrs with TS; skin lesions at 10 mo.; periungual fibromas; shagreen patches; son of GM08299; 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 |
1:5 |
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 |
- |
|
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