Description:
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Alternate IDs |
GM17336 [ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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ARABIAN
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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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48~50,XXXX~XXXXY,+11,?dup(15),add(15)(q26),der(15)t(?5;15),der(15)t(?8;15),der(15)t(?9;15),der(15)t(?13;15)[cp20].arr Xp22.33q28(108464-154887040)x4,11p15.5q25(1493104-132523580)x2~3
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Marji J, O'Donoghue SI, McClintock D, Satagopam VP, Schneider R, Ratner D, Worman HJ, Gordon LB, Djabali K, Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition PloS one5:e11132 2010 |
| PubMed ID: 20559568 |
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| 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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| Starr T, Wood S, A restriction-fragment-length difference detected by the anonymous probe DXS199 exhibits non-Mendelian inheritance. Am J Hum Genet42:267-70 1988 |
| PubMed ID: 2893545 |
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