NA07994
DNA from Fibroblast
Description:
DERIVATIVE CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
50 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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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(10)(10pter->10q26::6q23->6qter).ish der(10)(D6S2522+,CEP10+)
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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 |
6.53 |
| Passage Frozen |
5 |
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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 10: DERIVATIVE CHROMOSOME Aneuploid Segment (-)10q26>10qter |
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Chromosome 10: DERIVATIVE CHROMOSOME Aneuploid Segment (+)10pter->10q26 |
| Remarks |
Hypotonia; hypertelorism; down-slanting palpebral fissures; beaked nose; deepset eyes; low-set ears; anteverted nares; short, webbed neck; tapering fingers with pointed nails; partial syndactyly; hypospadius |
| 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 |
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