NA13672
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 |
14 |
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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 |
fs Gln649; MENKES DISEASE |
| Identified Mutation |
5 BP DUP |
| Remarks |
Line S1433; has decreased level of mRNA; donor subject has a direct duplication of 5 bases at the splice acceptor site preceding exon 9 of the ATP7A gene (ataagAT>ataagATAAGAT junction 2091/2092), resulting in a frameshift after Gln649 |
| Shen MW, Arbab M, Hsu JY, Worstell D, Culbertson SJ, Krabbe O, Cassa CA, Liu DR, Gifford DK, Sherwood RI, Predictable and precise template-free CRISPR editing of pathogenic variants Nature563:646-651 2018 |
| PubMed ID: 30405244 |
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| Kim BE, Smith K, Petris MJ, A copper treatable Menkes disease mutation associated with defective trafficking
of a functional Menkes copper ATPase. J Med Genet40(4):290-5 2003 |
| PubMed ID: 12676902 |
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| 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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