NA07981
DNA from Fibroblast
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 |
| 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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Black/African American
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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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47,XY,+i(12)(pter>p10::p10>pter)
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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 |
9 |
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| 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 |
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| Cytogenetics |
Chromosome 12: ANEUPLOID Aneuploid Segment (+)12pter>12p10 |
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Chromosome 12: ISOCHROMOSOME Aneuploid Segment (+)12pter>12p10 |
| Remarks |
Parents both have normal karyotypes; in peripheral blood leukocytes, 12% of cells examined showed the i(12p); multiple congenital anomalies including a small atrial septal defect; PallisterKillian syndrome; 100% +i(12p) at pas 12 |
| 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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| Reynolds JF, Daniel A, Kelly TE, Gollin SM, Stephan MJ, Carey J, Adkins WN, Webb MJ, Char F, Jimenez JF, et al, Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister- Killian syndrome): report of 11 cases. Am J Med Genet27:257-74 1987 |
| PubMed ID: 3605212 |
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