NA01920
DNA from Fibroblast
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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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Karyotypic analysis after cell line submission to CCR
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ISCN
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47,XY,t(8;14)(q13;q13),inv(9)(p11q13),+21[23].arr(21)x3
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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 |
4.77 |
| Passage Frozen |
5 |
| |
| 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 |
Clinical features of Down syndrome; see GM01921A Lymphoid |
| Burbulis IE1, Wierman MB2, Wolpert M2, Haakenson M2, Lopes MB3, Schiff D4, Hicks J5, Loe J6, Ratan A7, McConnell MJ8., Improved molecular karyotyping in glioblastoma Mutat Res8:16-26 2018 |
| PubMed ID: 30055482 |
| |
| Skovby F, Krassikoff N, Francke U, Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids. Hum Genet65:291-4 1984 |
| PubMed ID: 6583157 |
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| Howard-Peebles PN, Stoddard GR, Pericentric inversions of chromosome number 9: benign or harmful? Hum Hered29:111-7 1979 |
| PubMed ID: 155643 |
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