Description:
HOLOPROSENCEPHALY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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
|
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Transformant
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Epstein-Barr Virus
|
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Sample Source
|
DNA from LCL
|
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Race
|
Other
|
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Ethnicity
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CAUCASIAN/HISPANIC
|
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Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
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|
ISCN
|
46,XX.arr(1-22,X)x2
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Semilobar holoprosencephaly; Dandy Walker cyst; hypertelorism |
| 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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