Description:
COFFIN-LOWRY SYNDROME; CLS
INVERTED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| 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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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,inv(2)(pter>p11.2::q13>p11.2::q13> qter)
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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 |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 2: INVERSION Breakpoint 2p11 inv(2)2p11 |
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Chromosome 2: INVERSION Breakpoint 2q13 inv(2)2q13 |
| Remarks |
Mental retardation; short stature; unusual facies; tapering fingers; positive family history |
| 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 |
| |
| Lowry B, Miller JR, Fraser FC, A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus. Am J Dis Child121:496-500 1971 |
| PubMed ID: 5581017 |
| Passage Frozen |
4 |
| 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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