NA03501
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,XY,t(1;8)(p36.1;q22).ish t(1;8)(EXT1+,TRPS1+,SKI-,D1S3739+;TRPS1-,EXT1-,SKI+).arr 8q22.2q22.3(99553129-102781373)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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| PDL at Freeze |
6.72 |
| Passage Frozen |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 1: TRANSLOCATION Breakpoint 1p36 t(1;8)1p36 |
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Chromosome 1: TRANSLOCATION Breakpoint p36.1 |
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Chromosome 8: DELETION Breakpoint 8q23 t(1;8)8q23 |
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Chromosome 8: TRANSLOCATION Breakpoint 8q23 t(1;8)8q23 |
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Chromosome 8: TRANSLOCATION Breakpoint q22 |
| Remarks |
Retardation-dysmorphic syndrome |
| 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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| Martinsson T, Weith A, Cziepluch C, Schwab M, Chromosome 1 deletions in human neuroblastomas: generation and fine mapping of microclones from the distal 1p region. Genes Chromosomes Cancer1:67-78 1989 |
| PubMed ID: 2535035 |
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| McBride OW, Zmudzka BZ, Wilson SH, Chromosomal location of the human gene for DNA polymerase beta. Proc Natl Acad Sci U S A84:503-7 1987 |
| PubMed ID: 3467369 |
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