Description:
CEPH/AMISH PEDIGREE 884
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
CEPH
Repository Linkage Families |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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AMISH
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Family Member
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13
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Relation to Proband
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daughter
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Vincent JB, Neves-Pereira ML, Paterson AD, Yamamoto E, Parikh SV, Macciardi
F, Gurling HM, Potkin SG, Pato CN, Macedo A, Kovacs M, Davies M, Lieberman JA,
Meltzer HY, Petronis A, Kennedy JL, An unstable trinucleotide-repeat region on chromosome 13 implicated in
spinocerebellar ataxia: a common expansion locus. Am J Hum Genet66(3):819-29 2000 |
| PubMed ID: 10712198 |
| |
| Potter NT, Meiotic instability associated with the CAGR1 trinucleotide repeat at 13q13. J Med Genet34(5):411-3 1997 |
| PubMed ID: 9152839 |
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