NA03051
DNA from Fibroblast
Description:
TAY-SACHS DISEASE; TSD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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ASHKENAZI
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Family Member
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2
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Relation to Proband
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father
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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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| Passage Frozen |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| MUTATION VERIFICATION |
Myerowitz (Proc Natl Acad Sci USA 85:3955 1988) observed 1 normal alpha chain allele and 1 alpha chain allele with a splice junction mutation consisting of a cytidine residue substituting for a guanosine as the first nucleotide at the 5 prime boundary of intron 12. Arpaia et al (NATURE 333:85-86 1988) also observed that this Tay-Sachs disease heterozygote had the same splice junction mutation a DdeI restriction site as his affected daughter (GM02968). Myerowitz and Costigan (J Biol Chem 263:18587-18589 1988) reported that this patient lacked the 4 base pair insertion in exon 11 of the alpha chain gene which was found in his spouse and affected daughter. |
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| Remarks |
Ashkenazi; clinically unaffected; 1 alpha chain allele has a splice junction mutation; neither alpha chain allele has a 4 bp insertion in exon 11; father of GM02968A |
| Arpaia E, Dumbrille-Ross A, Maler T, Neote K, Tropak M, Troxel C, Stirling JL, Pitts JS, Bapat B, Lamhonwah AM, et al, Identification of an altered splice site in Ashkenazi Tay-Sachs disease. Nature333:85-6 1988 |
| PubMed ID: 3362213 |
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| Myerowitz R, Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group. Proc Natl Acad Sci U S A85:3955-9 1988 |
| PubMed ID: 3375249 |
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| Myerowitz R, Costigan FC, The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. J Biol Chem263:18587-9 1988 |
| PubMed ID: 2848800 |
| dbSNP |
dbSNP ID: 10595 |
| NCBI GTR |
272800 TAY-SACHS DISEASE; TSD |
| OMIM |
272800 TAY-SACHS DISEASE; TSD |
| Omim Description |
B VARIANT GM2 GANGLIOSIDOSIS |
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GM2-GANGLIOSIDOSIS, ADULT CHRONIC TYPE, INCLUDED |
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GM2-GANGLIOSIDOSIS, TYPE I |
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HEXA DEFICIENCYHEXOSAMINIDASE A, INCLUDED; HEXA, INCLUDED |
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HEXOSAMINIDASE A DEFICIENCY |
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HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE, INCLUDED |
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TAY-SACHS DISEASE, JUVENILE, INCLUDED |
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TAY-SACHS DISEASE, PSEUDO-AB VARIANT, INCLUDED |
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TAY-SACHS DISEASE, VARIANT B1, INCLUDED |
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TAY-SACHS DISEASE; TSD |
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