NA26074
DNA from Fibroblast
Description:
TUBEROUS SCLEROSIS, TYPE UNKNOWN
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases PIGI Consented Sample |
Quantity |
50 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
|
Back
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
|
DNA from Fibroblast
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Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
Old Order Mennonite
|
Country of Origin
|
USA
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
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Common Name
|
Human
|
Remarks
|
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PDL at Freeze |
4.68 |
Passage Frozen |
2 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Clinically affected; skin fibroblast derived from biopsied hypopigmented macule tissue; onset of symptoms at 6 months of age; diagnosed at 17 months; complex partial seizures; small confluent hypopigmented macules on back; mild right hemiparesis- involving hand more than the leg; developmental delay- at age 2: walks with a steady gait and good balance; has 50-100 spontaneous words, combines 2-3 words ; abnormal MRI: small subependymal nodules noted in both lateral ventricles, cortical dysplasia/tubers in anterior left frontal lobe, posterior left frontal lobe (cortical thickening), left occipital lobe and right parietal lobe; abnormal EEG: potential epileptogenicity in the left frontal region; whole exome sequencing did not reveal any identified pathogenic variants in TSC1 or TSC1; normal Affymetrix CytoScan; management: physical and occupational therapy; medications include: Keppra and Diastat; family history: no known history of tuberous sclerosis, subject has 3 healthy older brothers; maternal uncle has congenital mental handicap and seizures of unknown etiology. |
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