Description:
CEPH/UTAH PEDIGREE 1340
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
CEPH Repository Linkage Families |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
DNA from LCL
|
Race
|
White
|
Ethnicity
|
UTAH/MORMON
|
Family Member
|
7
|
Relation to Proband
|
son
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
Furman I, Rieder MJ, Da Ponte S, Carrington DP, Nickerson DA, Kruglyak L, Markianos K, Sequence-based linkage analysis. Am J Hum Genet75(4):647-53 2004 |
PubMed ID: 15329798 |
|
Norman PJ, Cook MA, Carey BS, Carrington CV, Verity DH, Hameed K, Ramdath DD, Chandanayingyong D, Leppert M, Stephens HA, Vaughan RW, SNP haplotypes and allele frequencies show evidence for disruptive and balancing selection in the human leukocyte receptor complex Immunogenetics56:225-37 2004 |
PubMed ID: 15185041 |
|
Hall MA, Norman PJ, Thiel B, Tiwari H, Peiffer A, Vaughan RW, Prescott S, Leppert M, Schork NJ, Lanchbury JS, Quantitative trait loci on chromosomes 1, 2, 3, 4, 8, 9, 11, 12, and 18 control variation in levels of T and B lymphocyte subpopulations. Am J Hum Genet70(5):1172-82 2002 |
PubMed ID: 11951176 |
|
Bowman ED, Bromeke B, Lensing W, Shields PG, Apolipoprotein E allelic frequency in elderly smokers. Am J Med Genet76(1):32-6 1998 |
PubMed ID: 9508061 |
|
Attwood J, Chiano M, Collins A, Donis-Keller H, Dracopoli N, Fountain J, Falk C, Goudie D, Gusella J, Haines J, et al, CEPH consortium Map of chromosome 9. Genomics19:203-14 1994 |
PubMed ID: 8188250 |
|
Goldman D, O'Brien SJ, Lucas-Derse S, Dean M, Linkage mapping of human polymorphic proteins identified by two-dimensional electrophoresis. Genomics11:875-84 1991 |
PubMed ID: 1686020 |
|
Board PG, Chapple R, Coggan M, Haplotypes of the coagulation factor XIII A subunit locus in normal and deficient subjects. Am J Hum Genet42:712-7 1988 |
PubMed ID: 2895980 |
|
Bufton L, Bruns GA, Magenis RE, Tomar D, Shaw D, Brook D, Litt M, Four restriction fragment length polymorphisms revealed by probes from a single cosmid map to chromosome 19. Am J Hum Genet38:447-60 1986 |
PubMed ID: 3010711 |
|
Buroker NE, Magenis RE, Weliky K, Bruns G, Litt M, Four restriction fragment length polymorphisms revealed by probes from a single cosmid map to human chromosome 12q. Hum Genet72:86-94 1986 |
PubMed ID: 3002956 |
|
Huang LS, Miller DA, Bruns GA, Breslow JL, Mapping of the human APOB gene to chromosome 2p and demonstration of a two-allele restriction fragment length polymorphism. Proc Natl Acad Sci U S A83:644-8 1986 |
PubMed ID: 3003743 |
|
Wood S, Poon R, Riddell DC, Royle NJ, Hamerton JL, A DNA marker for human chromosome 8 that detects alleles of differing sizes. Cytogenet Cell Genet42:113-8 1986 |
PubMed ID: 3460741 |
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