Description:
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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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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Black/African American
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Family Member
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1
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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,XX,del(13)(pter>q14:)
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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 |
15 |
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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 (-)13q14>13qter |
| Remarks |
Short term lymphocytes show r(13); formerly GM00250; mental and growth retardation, bilateral cleft lip and palate, and other congenital anomalies; no Retinoblastoma; slow growing culture |
| 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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| Nove J, Weichselbaum RR, Nichols WW, Albert DM, Little JB, In vitro studies of fibroblasts from patients with retinoblastoma. Int Ophthalmol Clin20:211-22 1980 |
| PubMed ID: 6995388 |
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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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| 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 |
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| Little, X-ray sensitivity of fibroblasts from patients with retinoblastoma and with abnormalities of chromosome 13. (from DNA Repair Mechanisms, Academic Press, Inc) "DNA Repair Mechanisms"1978, pp 685:176-84 1978 |
| PubMed ID: 477414 |
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| Aronson M, Zackai E, Mellman W, Miller RC, Greene AE, Coriell LL, A (13) terminal deletion, 46 chromosomes. Repository identification no. GM-250. Cytogenet Cell Genet15:57-8 1975 |
| PubMed ID: 1183234 |
| Passage Frozen |
15 |
| 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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