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 |
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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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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 |
9 |
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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 |
G727R; MENKES DISEASE |
| Identified Mutation |
GLY727ARG |
| Remarks |
Line S1407; normal level of mRNA; donor subject has G>A change at nucleotide 2324 in exon 10 of the ATP7A gene (2324G>A) resulting in replacement of glycine 727 by arginine [Gly727Arg (G727R)] |
| 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 |
| Passage Frozen |
9 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
8% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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