Description:
COFFIN-LOWRY SYNDROME; CLS
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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|
Cell Type
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B-Lymphocyte
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|
Tissue Type
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Blood
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|
Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
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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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|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
See GM03318 Fibroblast; mental retardation; coarse facies; positive family history |
| Zhang Y, Cho YY, Petersen BL, Bode AM, Zhu F, Dong Z, Ataxia telangiectasia mutated proteins, MAPKs, and RSK2 are involved in the
phosphorylation of STAT3. J Biol Chem278(15):12650-9 2003 |
| PubMed ID: 12562765 |
| |
| She QB, Ma WY, Zhong S, Dong Z, Activation of JNK1, RSK2, and MSK1 is involved in serine 112 phosphorylation of Bad by ultraviolet B radiation. J Biol Chem277(27):24039-48 2002 |
| PubMed ID: 11983683 |
| |
| 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 |
| |
| Nagasawa H, Kraemer KH, Shiloh Y, Little JB, Detection of ataxia telangiectasia heterozygous cell lines by postirradiation cumulative labeling index: measurements with coded samples. Cancer Res47:398-402 1987 |
| PubMed ID: 3791230 |
|