NA06047
DNA from Fibroblast
Description:
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
RING CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Disorders of the Nervous System |
| 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
|
White
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Relation to Proband
|
proband
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Confirmation
|
Clinical summary/Case history
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ISCN
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46,XY,r(17)(p13q25)[19]/47,XY,+8,r(17)(p13q25)[1]
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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 |
5.23 |
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Remarks |
Typical facies (bitemporal hollowing, thin downturned upper lip, micrognathia), umbilical hernia, sacral sinus tract, and cryptorchidism. |
| 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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