Description:
TRISOMY 21
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
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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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47,XY,+21[44]/47,XY,t(1;16)(q21;p13.3],+21[4]/46,XY[2]
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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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| PDL at Freeze |
6.4 |
| Passage Frozen |
6 |
| |
| 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 |
| |
| Cytogenetics |
Chromosome 21: ANEUPLOID Aneuploid Segment (+)21pter>21qter |
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Chromosome 21: ANEUPLOID Trisomic Segment 21pter>21qter |
| Remarks |
Down syndrome phenotype; same sensitivity to interferon A and B as normal diploid fibroblasts using both VSV and EMC virus; hyper-responsive to B-adrenergic stimulation |
| Zhou X, Cole SW, Hu S, Wong DT, Detection of DNA copy number abnormality by microarray expression analysis Human genetics114:464-7 2004 |
| PubMed ID: 14872338 |
| |
| Zhou X, Mok SC, Chen Z, Li Y, Wong DT, Concurrent analysis of loss of heterozygosity (LOH) and copy number abnormality (CNA) for oral premalignancy progression using the Affymetrix 10K SNP mapping array Human genetics115:327-30 2004 |
| PubMed ID: 15290239 |
| |
| Van Keuren ML, Goldman D, Merril CR, Protein variations associated with Down's syndrome, chromosome 21, and Alzheimer's disease. Ann N Y Acad Sci396:55-67 1982 |
| PubMed ID: 6217777 |
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| McSwigan JD, Hanson DR, Lubiniecki A, Heston LL, Sheppard JR, Down syndrome fibroblasts are hyperresponsive to beta-adrenergic stimulation. Proc Natl Acad Sci U S A78:7670-3 1981 |
| PubMed ID: 6278485 |
| Cumulative PDL at Freeze |
11.4 |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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