NA06873
DNA from Fibroblast
Description:
ISOCHROMOSOME
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities |
Quantity |
50 µg |
Quantitation Method |
Please see our FAQ |
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
|
Relation to Proband
|
proband
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Confirmation
|
Karyotypic analysis after cell line submission to CCR
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ISCN
|
46,XX,i(13)(qter>q10::q10>qter)
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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 Chromosome Analysis |
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Cytogenetics |
Chromosome 13: ISOCHROMOSOME Aneuploid Segment (+)13q10>13qter |
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Chromosome 13: ISOCHROMOSOME Aneuploid Segment (-)13p10>13pter |
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Chromosome 13: ISOCHROMOSOME Trisomic Segment 13q10>13qter |
Remarks |
Cleft lip & palate; empty right eye socket; radial denervation of wrists; duplication of great toes; scalp hemangioma; passage 3 at IMR; 46,XX,r(13) was also seen in blood lymphocytes |
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