Description:
COFFIN-LOWRY SYNDROME; CLS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
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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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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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ISCN
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46,XY
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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 |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Remarks |
See GM03317 Lymphoid; mental retardation; coarse facies; positive family history; 46,XY |
| Harum KH, Alemi L, Johnston MV, Cognitive impairment in Coffin-Lowry syndrome correlates with reduced RSK2 activation. Neurology56(2):207-14 2001 |
| PubMed ID: 11160957 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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