Description:
TUBEROUS SCLEROSIS 1; TSC1
TSC2 GENE; TSC2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Hereditary Cancers |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.27 |
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Clinically affected; diagnosed at age 5; seizures began at 5 months of age; walked at 12 months of age; speech delay (spoke at 2.5-3 years old); retinal lesion at inferior medial aspect of the left disc; adenoma sebaceum on the face; multiple ash-leaf hypopigmented macules over the back, arm and chest; confetti-like hypopigmented macules on lower legs; papular fibromatous lesions over the posterior trunk; 3 cm shagreen patch on right flank; skin tags on anterior chest and neck; irregular cafe-au-lait spot over the left trunk and left knee; multiple ungual fibromas on fingers and toes; fibromas on the forehead and scalp; history of behavioral problems in childhood/early teen years: hyperactive, aggressive, mal-adaptive, easily distractible, low self-esteem, depression, anxiety, poor interpersonal skills; seizure-free between the ages of 15 months to 11 years (while taking phenobarbitol and Dilantin) and again from age 18 to age 22 (while taking Tegretol); WAIS evaluation revealed intellectual functioning at age 16 was at lower end of the average range; abnormal EEG (age 16 – presence of sharp, spike and slow waves in the right temporal region); age 16-basal ganglia calcifications on skull x-ray; CT scan at age 17 noted subependymal calcifications; abnormal EEG (age 21 – presence of mild to moderate diffuse slowing but no epileptiform features); normal kidney ultrasound at age 21; at age 22, normal neurological exam and emotional problems have subsided with medication and psychotherapy; no mutations were identified in the TSC1 or TSC2 genes using PCR direct sequencing of all coding exons and 50 bases of the flanking intron; polymorphisms in TSC2 include 1578C>T, 1600-14C>T, 2546-12C>T, 2580T>C, 2639+44C>G, 5202T>C, and 5397G>C; medication history: Tegretol, Dilantin, Phenobarbital, Mysoline, Mellaril, Ritalin, Thorazine; same donor as GM06120 lymphocyte. |
| 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 |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
|
|