NA06960
DNA from Fibroblast
Description:
DICENTRIC 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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Black/African American
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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,X,idic(X)(q22).ish idic(X)(Xp22.3Xq11.1)(STS++,KAL1++,DXZ1++).arr[hg19]Xp11.21q21.1(57437093-81379626)x3,Xq21.1q22.3(81454047-104203139)x3,Xq23q28(115599164-155233846)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 |
6.48 |
| Passage Frozen |
8 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome X: DICENTRIC CHROMOSOME Aneuploid Segment (+)Xpter>Xq22 |
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Chromosome X: DICENTRIC CHROMOSOME Aneuploid Segment (-)Xq22>Xqter |
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Chromosome X: DICENTRIC CHROMOSOME Trisomic Segment (+)Xpter>Xq22 |
| Remarks |
Atrophic vagina and narrow, small uterus |
| Markaki Y, Gan Chong J, Wang Y, Jacobson EC, Luong C, Tan SYX, Jachowicz JW, Strehle M, Maestrini D, Banerjee AK, Mistry BA, Dror I, Dossin F, Schöneberg J, Heard E, Guttman M, Chou T, Plath K, Xist nucleates local protein gradients to propagate silencing across the X chromosome Cell184:6174-6192.e32 2020 |
| PubMed ID: 34813726 |
| |
| Chadwick BP, Characterization of chromatin at structurally abnormal inactive X chromosomes reveals potential evidence of a rare hybrid active and inactive isodicentric X chromosome Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology184:6174-6192.e32 2019 |
| PubMed ID: 31776830 |
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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 |
| |
| Carrel L, Willard HF, Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci U S A96:7364-9 1999 |
| PubMed ID: 10377420 |
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