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NA03552 DNA from Fibroblast

Description:

TRANSLOCATED CHROMOSOME

Affected:

Yes

Sex:

Female

Age:

29 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
Alternate IDs GM17083 [TRANSLOCATED CHROMOSOME]
Quantity 0.050mg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race Asian
Ethnicity VIETNAMESE
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Vietnamese; gonadal dysgenesis; negative for H-Y antigen; in lymphocytes terminally pulsed with BrdU, normal X was late replicating; elevated gonadotropins; axillary and pubic hair; 45% of cells have 18q+

Characterizations

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Passage Frozen 16
 
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
 

Phenotypic Data

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Remarks Vietnamese; gonadal dysgenesis; negative for H-Y antigen; in lymphocytes terminally pulsed with BrdU, normal X was late replicating; elevated gonadotropins; axillary and pubic hair; 45% of cells have 18q+

Publications

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Carrel L, Willard HF, Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci U S A96:7364-9 1999
PubMed ID: 10377420
 
Junien C, van Heyningen V, Evans G, Little P, Mannens M, Report of the second chromosome 11 workshop. Genomics12:620-5 1992
PubMed ID: 1348491
 
Sugawara O, Oshimura M, Koi M, Annab LA, Barrett JC, Induction of cellular senescence in immortalized cells by human chromosome 1. Science247:707-10 1990
PubMed ID: 2300822
 
Wei S, Rocchi M, Archidiacono N, Sacchi N, Romeo G, Gatti RA, Physical mapping of the human chromosome 11q23 region containing the ataxia-telangiectasia locus [see comments] Cancer Genet Cytogenet46:1-8 1990
PubMed ID: 2331673
 
Maslen CL, Jones C, Glaser T, Magenis RE, Sheehy R, Kellogg J, Litt M, Seven polymorphic loci mapping to human chromosomal region 11q22-qter. Genomics2:66-75 1988
PubMed ID: 2898428
 
Buckle VJ, Boyd Y, Fraser N, Goodfellow PN, Goodfellow PJ, Wolfe J, Craig IW, Localisation of Y chromosome sequences in normal and 'XX' males. J Med Genet24:197-203 1987
PubMed ID: 3035183
 
Rovigatti U, Watson DK, Yunis JJ, Amplification and rearrangement of Hu-ets-1 in leukemia and lymphoma with involvement of 11q23. Science232:398-400 1986
PubMed ID: 3457468
 
Saxon PJ, Srivatsan ES, Stanbridge EJ, Introduction of human chromosome 11 via microcell transfer controls tumorigenic expression of HeLa cells. EMBO J5:3461-6 1986
PubMed ID: 2881780
 
Murphy PD, Ruddle FH, Isolation and regional mapping of random X sequences from distal human X chromosome. Somat Cell Mol Genet11:433-44 1985
PubMed ID: 2994237
 
Chiang YL, Ley TJ, Sanders-Haigh L, Anderson WF, Human globin gene expression in hybrid 2S MEL X human fibroblast cells. Somat Cell Mol Genet10:399-407 1984
PubMed ID: 6589792
 
Haseltine FP, Lynch VA, Van Dyke DL, Breg WR, Francke U, H-Y antigen expression in patients with X-autosomal translocations and gonadal dysgenesis. Am J Med Genet13:115-23 1982
PubMed ID: 7137226
 
Migeon BR, Brown TR, Axelman J, Migeon CJ, Studies of the locus for androgen receptor: localization on the human X chromosome and evidence for homology with the Tfm locus in the mouse. Proc Natl Acad Sci U S A78:6339-43 1981
PubMed ID: 6947233
 
Wang AL, Arredondo-Vega FX, Giampietro PF, Smith M, Anderson WF, Desnick RJ, Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter. Proc Natl Acad Sci U S A78:5734-8 1981
PubMed ID: 6946513
 
Rudak, X/11 translocation: Replication and mapping studies. Cytogenet Cell Genet25:199 (1979):5734-8 1979
PubMed ID: 6946513
 
Scott AF, Phillips JA 3d, Migeon BR, DNA restriction endonuclease analysis for localization of human beta- and delta-globin genes on chromosome 11. Proc Natl Acad Sci U S A76:4563-5 1979
PubMed ID: 291988

External Links

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dbSNP dbSNP ID: 10672
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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