NA08808
DNA from Fibroblast
Description:
CHROMOSOME DELETION
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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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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,del(7)(pter->q32::q34->qter) or del(7)(pter->q34::q36->qter).ish del(7)(wcp7+,G31341+,G31340+)
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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 |
6.72 |
| 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 7: DELETION Aneuploid Segment (-)7q34>7qter |
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Chromosome 7: DELETION Aneuploid Segment (-)7q32q34 or (-)7q34q36 |
| Remarks |
Postnatal growth retardation; prominent philtrum; hypoplastic mandible; dysplastic, large auricles; pectus excavatus; asymetrci thorax; bilateral digitus superductus; mental and statomotor retardation; hypotonia; microcephaly; hydrocephaly internus; hypoplasia of corpus callosum |
| Greer SU, Botello J, Hongo D, Levy B, Shah P, Rabinowitz M, Miller DE, Im K, Kumar A, Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic Journal of translational medicine21:378 2023 |
| PubMed ID: 37301971 |
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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 |
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| Gurrieri F, Trask BJ, van den Engh G, Krauss CM, Schinzel A, Pettenati MJ, Schindler D, Dietz-Band J, Vergnaud G, Scherer SW, et al, Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nat Genet3:247-51 1993 |
| PubMed ID: 8485580 |
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