Description:
TUBEROUS SCLEROSIS 1; TSC1
TSC1 GENE; TSC1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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Race
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White
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
TSC1 |
| Chromosomal Location |
9q34 |
| Allelic Variant 1 |
W750X; TUBEROUS SCLEROSIS, TYPE I |
| Identified Mutation |
TRP750TER |
| Remarks |
Same subject as GM06149 (fibroblast) and GM28959 (iPSC); clinically affected; seizures; hypopigmented macules on right shoulder, right thigh, left chest, right knee, lower back and right upper arm; café-au-lait spot on right wrist; confetti hypopigmentation over back and legs; myopia; at age 17 there were no shagreen patches, ungual fibromas or adenoma sebaceum; calcifications in brain; donor subject is heterozygous for G>A transition at nucleotide 2249 in exon 18 of the TSC1 gene [2249G>A] resulting in a substitution of a termination signal for tryptophan at codon 750 [Trp750Ter (W750X)]; polymorphisms in the TSC1 gene include 2829C>T; polymorphisms in the TSC2 gene include 479-3C>T, 5161-10A>C, 5202T>C, 5259+72C>T; affected father is GM06148 (Fibroblast) and affected brother is GM06150 (Fibroblast). |
| 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 |
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