Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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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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2
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Relation to Proband
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parent
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XX,t(7;18)(7pter>7q36::18q12.2> 18qter;18pter>18q12.2::7q36>7qter)
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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 |
8 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 18: TRANSLOCATION Breakpoint 18q12 t(7;18)18q12 |
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Chromosome 7: TRANSLOCATION Breakpoint 7q36 t(7;18)7q36 |
| Remarks |
Clinically normal; proband not in Repository; unbalanced child showed mental retardation, developmental delay, seizures, dysmorphic facial features, syndactyly, and optic atrophy |
| Passage Frozen |
8 |
| 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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