NA13674
DNA from Fibroblast
Description:
MENKES SYNDROME
ATPASE, CU(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Metal 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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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
ATP7A |
| Chromosomal Location |
Xq21.1 |
| Allelic Variant 1 |
Q167X; MENKES DISEASE |
| Identified Mutation |
GLN167TER |
| Remarks |
Line S1560; has decreased level of mRNA; donor subject has a nonsense mutation, a C>T change at nucleotide 644 in exon 3 of the ATP7A gene ( 644C>T) between the sequences coding for the 1st and 2nd metal-binding domains, resulting in a premature stop codon at Gln 167 [Gln167Ter (G167X)] |
| Das S, Levinson B, Whitney S, Vulpe C, Packman S, Gitschier J, Diverse mutations in patients with Menkes disease often lead to exon skipping. Am J Hum Genet55:883-889 1994 |
| PubMed ID: 7977350 |
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