NA02963
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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Black/African American
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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,XY,t(3;17)(p21;q25).arr(1-22)x2,(XY)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 |
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 17q25 t(3;17)17q25 |
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Chromosome 3: TRANSLOCATION Breakpoint 3p21 t(3;17)3p21 |
| Remarks |
Clinically affected; unusual facies; hirsute; broad hands and feet; teeth overgrown with fibrous tissue (gingival hyperplasia); refer to DGAP003 (http://www.bwhpathology.org/dgap/). |
| 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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| Wagner T, Tommerup N, Wirth J, Leffers H, Zimmer J, Back E, Weissenbach J, Scherer G, A somatic cell hybrid panel for distal 17q: GDIA1 maps to 17q25.3. Cytogenet Cell Genet76:172-5 1997 |
| PubMed ID: 9186513 |
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| Leach RJ, Chinn R, Reus BE, Hayes S, Schantz L, Dubois B, Overhauser J, Ballabio A, Drabkin H, Lewis TB, et al, Regional localization of 188 sequence tagged sites on a somatic cell hybrid mapping panel for human chromosome 3. Genomics24:549-56 1994 |
| PubMed ID: 7713507 |
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| Drabkin H, Sage M, Helms C, Green P, Gemmill R, Smith D, Erickson P, Hart I, Ferguson-Smith A, Ruddle F, et al, Regional and physical mapping studies characterizing the Greig polysyndactyly 3;7 chromosome translocation, t(3;7)(p21.1;p13). Genomics4:518-29 1989 |
| PubMed ID: 2545596 |
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