Description:
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
CHROMOSOME DELETION
|
Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
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Peripheral vein
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|
Cell Type
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B-Lymphocyte
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|
Tissue Type
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Blood
|
|
Transformant
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Epstein-Barr Virus
|
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Sample Source
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DNA from LCL
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
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Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,X,der(Y)t(Y;10)(q12;q23.1).ish der(Y)t(Y;10)(q12;q23.1)(SRY+,RP11-539D10+,DYZ1+,D10S2490+,wcp10+).arr 10q23.1q26.3(82478696-135356682)x3
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|
Species
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Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Remarks |
Microphthalmos; blepharophimosis; ptosis; malrotation; mental retardation; scoliosis |
| 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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