NA09824
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
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 |
Biopsy Source
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Ovary
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Cell Type
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Fibroblast
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Tissue Type
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Gonad
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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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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,X,der(X)t(X;Y)(q21.3;q12).arr Xq21.33q28(95263331-154582680)x1
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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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Passage Frozen |
4 |
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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 X: DERIVATIVE CHROMOSOME Aneuploid Segment (-)Xq21>Xqter |
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Chromosome Y: DERIVATIVE CHROMOSOME Aneuploid Segment (0)Ypter>Yq12 |
Remarks |
Left ovary fibroblast culture; primary amenorrhea; absent secondary sexual characteristics; presence of Yq12 on the abnormal X chromosome confirmed by in situ hybridization with probe DY21; same patient as GM09825 |
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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