GM06120
LCL from B-Lymphocyte
Description:
TUBEROUS SCLEROSIS 1; TSC1
TSC2 GENE; TSC2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Country of Origin
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USA
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| 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 GM06121 fibroblast. |
| Loughlin DT1, Artlett CM., Precursor of advanced glycation end products mediates ER-stress-induced caspase-3 activation of human dermal fibroblasts through NAD(P)H oxidase 4. PLoS One5(6): 2010 |
| PubMed ID: 20559423 |
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| 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 |
| Split Ratio |
1:3 |
| 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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