GM07082
Fibroblast from Lung, Lung
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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Biopsy Source
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Lung
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Cell Type
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Fibroblast
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Tissue Type
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Lung
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Lung, Lung
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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,+der(7)(7pter> 7q11.2::15q11.2>15qter)mat,-15
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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 |
6 |
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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 and by Chromosome Analysis |
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| Cytogenetics |
Chromosome 15: DERIVATIVE CHROMOSOME Aneuploid Segment (-)15pter>15q11 |
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Chromosome 7: DERIVATIVE CHROMOSOME Aneuploid Segment (+)7pter>7q11 |
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Chromosome 7: DERIVATIVE CHROMOSOME Trisomic Segment 7pter>7q11 |
| Remarks |
Lung biopsy; microcephaly,hypertelorism, cleft palate and gingiva,left club foot, large fontanelle, congenital dislocation of shoulders and hips, congenital heart disease, failure to thrive, and developmental delay |
| Passage Frozen |
6 |
| Split Ratio |
1:5 |
| 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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