Description:
ATAXIA-TELANGIECTASIA; AT
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
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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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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,X,t(X;14)(Xpter>Xq26::14q13>14qter;14pter>14q13::Xq26>Xqter)[2]/46,XX[48]
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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 |
10 |
| Passage Frozen |
6 |
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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 |
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| Remarks |
The donor is an obligate heterozygote. The biopsy was taken post-mortem on 6/10/96. The culture was initiated using explants of minced breast stromal tissue. The cell morphology is fibroblast-like. The karyotype is 46,X,t(X;14)(Xpter>Xq26::14q13>14qter;14pter>14q13::Xq26>Xqter)[2]/46,XX[48] with 12% of the cells examined showing random chromosome loss and 4% showing random chromosomal aberrations. A matched breast skin-derived fibroblast culture from same donor is AG14262. Slow growing culture. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| NCBI GTR |
208900 ATAXIA-TELANGIECTASIA; AT |
| OMIM |
208900 ATAXIA-TELANGIECTASIA; AT |
| Omim Description |
AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED |
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AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED |
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AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED |
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AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED |
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AT1 |
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ATAXIA-TELANGIECTASIA; AT |
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LOUIS-BAR SYNDROMEATAXIA-TELANGIECTASIA MUTATED, INCLUDED; ATM, INCLUDED |
| Cumulative PDL at Freeze |
10 |
| Passage Frozen |
6 |
| 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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