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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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(13)(pter>q22::q32>qter)
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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 |
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 13: DELETION Aneuploid Segment (-)13q22>13q32 |
| Remarks |
Bilateral colobomas; multiple congenital anomalies of hands and feet |
| 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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| Cavenee W, Leach R, Mohandas T, Pearson P, White R, Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13. Am J Hum Genet36:10-24 1984 |
| PubMed ID: 6320640 |
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| Nove J, Nichols WW, Weichselbaum RR, Little JB, Abnormalities of human chromosome 13 and in vitro radiosensitivity; a study of 19 fibroblast strains. Mutat Res84:157-67 1981 |
| PubMed ID: 7329430 |
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| Weichselbaum RR, Nove J, Albert D, Little JB, An in vitro investigation of genetic susceptibility to cancer in diploid fibroblasts from retinoblastoma patients. Teratog Carcinog Mutagen1:171-9 1980 |
| PubMed ID: 6119809 |
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| Weichselbaum RR, Nove J, Little JB, X-ray sensitivity of fifty-three human diploid fibroblast cell strains from patients with characterized genetic disorders. Cancer Res40:920-5 1980 |
| PubMed ID: 7471105 |
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| Nichols WW, Miller RC, Hoffman E, Albert D, Weichselbaum RR, Nove J, Little JB, Interstitial deletion of chromosome 13 and associated congenital anomalies. Hum Genet52:169-73 1979 |
| PubMed ID: 511172 |
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| Nove J, Little JB, Weichselbaum RR, Nichols WW, Hoffman E, Retinoblastoma, chromosome 13, and in vitro cellular radiosensitivity. Cytogenet Cell Genet24:176-84 1979 |
| PubMed ID: 477414 |
| Passage Frozen |
9 |
| Split Ratio |
1:2 |
| 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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