Description:
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| Alternate IDs |
GM17225 [APPARENTLY HEALTHY INDIVIDUAL] |
| 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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Family Member
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1
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Relation to Proband
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parent
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Confirmation
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Karyotypic analysis and Case history
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ISCN
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46,XY
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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 and by Chromosome Analysis |
| |
| Remarks |
Father of a child with an unbalanced translocation; 46,XY; 14% of cells show random chromosome loss/gain and 2% show random chromosomal aberrations; wife {46,XX,t(11;16)} is GM06316A Lymphoid |
| Sotamaa K, Liyanarachchi S, Mecklin JP, Järvinen H, Aaltonen LA, Peltomäki P, de la Chapelle A, p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome Clinical cancer research : an official journal of the American Association for Cancer Research11:6840-4 2005 |
| PubMed ID: 16203772 |
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| Ho EL, Satoh MS, Repair of single-strand DNA interruptions by redundant pathways and its implication in cellular sensitivity to DNA-damaging agents. Nucleic Acids Res31(23):7032-40 2003 |
| PubMed ID: 14627836 |
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| Baumann P, West SC, DNA end-joining catalyzed by human cell-free extracts. Proc Natl Acad Sci U S A95:14066-70 1998 |
| PubMed ID: 9826654 |
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| Klungland A, Lindahl T, Second pathway for completion of human DNA base excision-repair: reconstitution with purified proteins and requirement for DNase IV (FEN1). EMBO J16:3341-8 1997 |
| PubMed ID: 9214649 |
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| Clepet C, Schafer AJ, Sinclair AH, Palmer MS, Lovell-Badge R, Goodfellow PN, The human SRY transcript. Hum Mol Genet2:2007-12 1993 |
| PubMed ID: 8111368 |
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| Yu WD, Wenger SL, Steele MW, X chromosome imprinting in fragile X syndrome. Hum Genet85:590-4 1990 |
| PubMed ID: 2227950 |
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