NG10292
DNA from Fibroblast
Description:
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 13
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Chromosome Abnormalities |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Abdomen
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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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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Clinical summary/Case history
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ISCN
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47,XX,+13
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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 |
| Passage Frozen |
5 |
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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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| Remarks |
The donor was diagnosed as trisomy 13 based on clinical features of bilateral cataracts, microphthalmia, micrognathia, microcephaly, cleft palate, scalp lesions, low-set ears, coloboma of the right eye, simian crease of right hand, umbilical and right inguinal hernias, and a holosystolic murmur. The karyotype is 47,XX,+13 and confirms the diagnosis. 2% of cells examined showed 46,XX. The biopsy was taken ante-mortem on 9/12/88 during a hernia operation. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblast-like. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Henderson AA, Borgaonkar DS, Trisomy 13 (Patau) syndrome in Delaware. Del Med J57:629-34 1985 |
| PubMed ID: 4076474 |
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