NA01221
DNA from Fibroblast
Description:
CHROMOSOME INSERTION
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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,XY,der(5)ins(5;6)(q35;q15q27)mat.ish der(5)ins(5;6)(wcp5+,D5S23+,D5S721+,EGR1+,wcp6+,D5S2097+).arr 6q12q23.1(65704289-131114600)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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| PDL at Freeze |
8.92 |
| Passage Frozen |
9 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Cytogenetics |
Chromosome 6: DERIVATIVE CHROMOSOME Aneuploid Segment (+)6q15>6q27 |
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Chromosome 6: DERIVATIVE CHROMOSOME Trisomic Segment 6q15>6q27 |
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Chromosome 6: INSERTION Aneuploid Segment (+)6q15>6q27 |
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Chromosome 6: INSERTION Aneuploid Segment (+)6q15q27 |
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Chromosome 6: INSERTION Trisomic Segment 6q15>6q27 |
| Remarks |
Partial trisomy of 6q15q27; peculiar facies; short and stubby fingers; bilateral clinodactyly of 5th finger; bilateral simian creases but left is atypical |
| 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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| Chen H, Tyrkus M, Cohen F, Woolley PV Jr, Mayeda K, Bhogaonker A, Espirtu CE, Simpson W, Familial partial trisomy 6q syndromes resulting from inherited ins (5;6) (q33;q15q27). Clin Genet9:631-7 1976 |
| PubMed ID: 1277576 |
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| Chen, Inherited ins(5;6)(q33;q15q27) and partial trisomy 6q syndrome. Am J Hum Genet27:24A (1975):631-7 1975 |
| PubMed ID: 1277576 |
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