NA03648
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
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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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White
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Family Member
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2
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Relation to Proband
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half-brother
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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(6)t(1;6)(q41;p25)mat.arr 1q41q44(213286053-243703033)x3,6p25.3(94648-592953)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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| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 1: DERIVATIVE CHROMOSOME Aneuploid Segment (+)1q32>1qter |
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Chromosome 1: DERIVATIVE CHROMOSOME Trisomic Segment 1q32>1qter |
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Chromosome 6: DERIVATIVE CHROMOSOME Aneuploid Segment (-)6pter>6p25 |
| Remarks |
Growth and mental retardation; mildly dysmorphic; partial trisomy of the distal long arm of chromosome 1 |
| 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, Sekhon GS, Partial trisomy of chromosome no. 1 in two adult brothers due to maternal translocation (1q--;6p+). Hum Genet44:277-85 1978 |
| PubMed ID: 730168 |
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