NA12515
DNA from Somatic cell hybrid
Description:
CHROMOSOME 2 REGIONAL MAPPING PANEL SOMATIC CELL HYBRIDS
ADDITIONAL DELETION/DERIVATIVE X CHROMOSOME SOMATIC CELL HYBRIDS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Hybrids |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Somatic cell hybrid
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Transformant
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Untransformed
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Sample Source
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DNA from Somatic cell hybrid
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Confirmation
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Clinical summary/Case history
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ISCN
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Human/Chinese hamster hybrid retaining human Xqter>Xq22::2p25>2q13:
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Remarks
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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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| GENE MAPPING & DOSAGE STUDIES - X CHROMOSOME |
PCR analysis of DNA from this somatic cell hybrid gave negative results with primers for Xp11.3, DXS1003, Xp22.32, STS, Xq12, DXS453, Xq13.3, PGK1, and Xq21.3, DXS3, and gave positive results with primers for Xq26, HPRT and Xq28, G6PD. |
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| GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 2 |
PCR analysis of DNA from this somatic cell hybrid gave positive results with primers for 2p13, TGFA, and 2p23, POMC, and gave negative results with primers for 2q13, IL1A, and 2q37, ALPP. |
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| GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 4 |
PCR analysis of DNA from this somatic cell hybrid gave negative results with primers for 4p15.3, QDPR, and 4q11-q13, AFP. |
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| Remarks |
Line JFA6; produced by fusing human cells from a patient with isolated lissencephaly, 46,X,t(X;2)(q22;p25), with HPRT -deficient Chinese hamster RJK88 cells; grown in HZ medium; retains human Xqter> q22::2p25>q13: in 76% of cells |
| Hotzel I, Cheevers WP, A maedi-visna virus strain K1514 receptor gene is located in sheep chromosome 3p and the syntenic region of human chromosome 2. J Gen Virol83(Pt 7):1759-64 2002 |
| PubMed ID: 12075096 |
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| Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA, Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell92:63-72 1998 |
| PubMed ID: 9489700 |
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| Matsumoto N, Pilz DT, Fantes JA, Kittikamron K, Ledbetter DH, Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation. J Med Genet35:829-32 1998 |
| PubMed ID: 9783706 |
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