Description:
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
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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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Relation to Proband
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proband
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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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47,XY,+i(12)(pter>p10::p10>pter)[37]/46,XY[13]
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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, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Cytogenetics |
Chromosome 12: ANEUPLOID Aneuploid Segment (+)12pter>12p10 |
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Chromosome 12: ISOCHROMOSOME Aneuploid Segment (+)12pter>12p10 |
| Remarks |
Premature birth; left congenital diaphragmatic hernia; respiratory distress syndrome; large posterior & anterior fontanel; sml, low-set, posteriorly rotated ears; high, arched palate; 74% of cells are 47,XY,+iso(12p); pass 1 at CCR |
| Bergoffen J, Punnett H, Campbell TJ, Ross AJ 3d, Ruchelli E, Zackai EH, Diaphragmatic hernia in tetrasomy 12p mosaicism. J Pediatr122:603-6 1993 |
| PubMed ID: 8463911 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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