NA03255
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
dbGaP |
| Quantity |
50 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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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,XY,der(15)t(8;15)(p21;q26)mat.arr 8p23.3p21.1(36385-28569584)x3,15q26.3(96644076-100276767)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 15: DERIVATIVE CHROMOSOME Aneuploid Segment (-)15q26>15qter |
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Chromosome 8: DERIVATIVE CHROMOSOME Aneuploid Segment (+)8pter>8p21 |
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Chromosome 8: DERIVATIVE CHROMOSOME Trisomic Segment 8pter>8p21 |
| Remarks |
Partial trisomy 8(p); growth retardation; dysmorphic features; skeletal abnormalities; congenital heart defect |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2022 |
| PubMed ID: 35039224 |
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| 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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| Lin MS, Zhang A, Fujimoto A, Asynchronous DNA replication between 15q11.2q12 homologs: cytogenetic evidence for maternal imprinting and delayed replication. Hum Genet96(5):572-6 1995 |
| PubMed ID: 8530005 |
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| Jones LA, Dengler DR, Taysi K, Shackelford GD, Hartmann AF, Partial trisomy of the short arm of chromosome 8 resulting from balanced maternal translocation. J Med Genet17:232-5 1980 |
| PubMed ID: 7401137 |
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