NA00622
DNA from Fibroblast
Description:
NEUROFIBROMATOSIS, TYPE I; NF1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers
dbGaP |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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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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 |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Remarks |
Clinically affected |
| 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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| Ling JQ, Hou A, Hoffman AR, Long-range DNA interactions are specifically altered by locked nucleic acid-targeting of a CTCF binding site Biochimica et biophysica acta1809:24-33 2010 |
| PubMed ID: 21111075 |
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| Hjelle B, Liu E, Bishop JM, Oncogene v-src transforms and establishes embryonic rodent fibroblasts but not diploid human fibroblasts. Proc Natl Acad Sci U S A85:4355-9 1988 |
| PubMed ID: 3132710 |
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| Schwenn MR, Weichselbaum RR, Little JB, Investigation of the cytotoxic effects of DNA damaging agents on neurofibromatosis cells. Mutat Res142:55-8 1985 |
| PubMed ID: 3919286 |
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| Paterson, Gamma-ray hypersensitivity and faulty DNA repair in cultured cells from humans exhibiting familial cancer proneness. Proc 6th Int Cong Rad Res, Tokyo(1979) p 484:55-8 1979 |
| PubMed ID: 3919286 |
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