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NA26074 DNA from Fibroblast

Description:

TUBEROUS SCLEROSIS, TYPE UNKNOWN

Affected:

Yes

Sex:

Female

Age:

2 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Quantity 10 µg
Quantitation Method Please see our FAQ
Biopsy Source Back
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source DNA from Fibroblast
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
Common Name Human
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.

Characterizations

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PDL at Freeze 4.68
Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 

Phenotypic Data

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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.
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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