NA05299
DNA from Fibroblast
Description:
CHROMOSOME DELETION
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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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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,XX,del(10)(q26).ish del(10)(q26)(D10S2488+,D10S2490-),?dup(17)(p13)(D17S2199+).arr 10q26.11q26.3(121220107-135356682)x1,17p13.3(513-1927281)x3
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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 10: DELETION Aneuploid Segment (-)10q26>10qter |
| Remarks |
Intrauterine growth retardation; microcephaly; dysmorphic features; congenital heart disease (truncus type I) |
| 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 2021 |
| 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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| Taysi K, Strauss AW, Yang V, Padmalatha C, Marshall RE, Terminal deletion of the long arm of chromosome 10 : q26 to qter. Case report and review of literature. Ann Genet25:141-4 1982 |
| PubMed ID: 6982660 |
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