NA05875
DNA from Fibroblast
Description:
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| 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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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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46,XX,del(16)(p11.2p12)[24].arr 16p12.1p11.2(27,203,030-32,180,964)x1
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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 |
5.28 |
| Passage Frozen |
9 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 16: DELETION Aneuploid Segment (-)16p11.2>16p11.1 |
| Remarks |
Low set ears, hypertelorism with wide Mongolian slant, beaked nose, Pierre Robin anomalies, and hypoplastic nipples |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
| |
| Callen DF, Baker E, Eyre HJ, Lane SA, An expanded mouse-human hybrid cell panel for mapping human chromosome 16. Ann Genet33:190-5 1990 |
| PubMed ID: 2095701 |
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