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 |
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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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Karyotypic analysis after cell line submission to CCR
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ISCN
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45,X,der(5)t(Y;5)(p11.2;p14).arr Yp11.2q12(5312109-28598397
)x0,5p15.33p14.1(68519-25516049)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 |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 5: DELETION Aneuploid Segment (-)5pter>5p14 |
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Chromosome 5: DERIVATIVE CHROMOSOME Aneuploid Segment (-)5pter>5p14 |
| Remarks |
Cri-du-chat syndrome; mental retardation; HY-antigen positive in peripheral blood lymphoblasts; normal plasma testosterone and male external genitalia; lymphocytes show same karyotype as fibroblasts and both parents have normal karyotypes |
| 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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| Weber B, Schempp W, Orth U, Seidel H, Gal A, A Y/5 translocation in a 45,X male with cri du chat syndrome. Hum Genet77:145-50 1987 |
| PubMed ID: 3653888 |
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| Seidel H, Miller K, Spoljar M, Stengel-Rutkowski S, 45,X constitution in a H-Y antigen positive boy with partial monosomy 5p. Clin Genet19:290-7 1981 |
| PubMed ID: 7273470 |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| 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 |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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