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 |
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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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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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Clinical summary/Case history
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ISCN
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46,XY,del(10)(qter>p11:)
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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 |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 10 |
Mathew et al (Ann Hum Genet 54:121-129,1990) analyzed DNA from this 46,XY,del(10) cell line in Southern blot hybridization experiments using a number of chromosome 10 markers to determine the copy numbers present. The following results were obtained: D10S28 (pter>p13) - 1 copy, VIM (p13>p12) - 1 copy, and D10S34 (p12>p11) - 1 copy. |
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| Cytogenetics |
Chromosome 10: DELETION Aneuploid Segment (-)10pter>10p11 |
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Chromosome 10: DELETION Aneuploid Segment (-)10p14>10p11 |
| Remarks |
Psychomotor retardation; trigonencephaly, and multiple congenital anomalies |
| 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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| Zhou X, Mok SC, Chen Z, Li Y, Wong DT, Concurrent analysis of loss of heterozygosity (LOH) and copy number abnormality (CNA) for oral premalignancy progression using the Affymetrix 10K SNP mapping array Human genetics115:327-30 2004 |
| PubMed ID: 15290239 |
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| Mathew CG, Wakeling W, Jones E, Easton D, Fisher R, Strong C, Smith B, Chin K, Little P, Nakamura Y, et al, Regional localization of polymorphic markers on chromosome 10 by physical and genetic mapping. Ann Hum Genet54 ( Pt 2):121-9 1990 |
| PubMed ID: 1974407 |
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| Gitelman, Regional mapping of the loci for hexokinase-1(HK1) and glutamic oxaloacetic transaminase-1(GOT1) on chromosome 10 by gene dosage studies. Cytogenet Cell Genet32:281 (1982):121-9 1982 |
| PubMed ID: 1974407 |
| Passage Frozen |
7 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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