NA02598
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
DGAP
dbGaP |
| 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
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White
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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,del(Y)(q11.21),der(17)t(Y;17)(Yq11.21;17p13)[20]/45,X,der(Y;17)(Yq11.21;17p13)[5].ish del(Y)(q11.21)(SRY+,DYZ3+,DYZ1-,D17S2199-,D17S2200-),der(17)t(Y;17)(DYZ1+,DYZ3-,SRY-,D17S2199+,D17S2200+).arr Yp11.2q11.221(10135901-16311264)x0˜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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| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 17: TRANSLOCATION Breakpoint 17p13 t(Y;17)17p13 |
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Chromosome Y: TRANSLOCATION Breakpoint Yq11 t(Y;17)Yq11 |
| Remarks |
Gonadoblastoma; streak gonad; amenorrhea; skin fibroblast culture |
| 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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| Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC, Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project American journal of human genetics82:712-22 2007 |
| PubMed ID: 18319076 |
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| Rary JM, Middleton A, Mulivor RA, Greene AE, Coriell LL, A (Y;17) translocation in a fibroblast culture from a female with 46 chromosomes. Repository identification No. GM-2598. Cytogenet Cell Genet24:198 1979 |
| PubMed ID: 573194 |
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