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GM00119 Fibroblast

Description:

TRANSLOCATED CHROMOSOME

Affected:

No Data

Sex:

Female

Age:

31 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
Cell Type Fibroblast
Transformant Untransformed
Race White
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 46,XX,t(17;22)(17qter>17p13::22q11> 22qter;22pter>22q11::17p13>17pter)
Species Homo sapiens
Common Name Human
Remarks Clinically normal

Characterizations

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Passage Frozen 5
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
Cytogenetics Chromosome 17: TRANSLOCATION Breakpoint 17p13 t(17;22)17p13
Chromosome 22: TRANSLOCATION Breakpoint 22q11 t(17;22)22q11

Phenotypic Data

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Remarks Clinically normal

Publications

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Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA, Williams KM, Minoshima S, Sasaki T, Shimizu N, Potocki L, Pulijaal V, Shanske A, Shaffer LG, Morrow BE, Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum Mol Genet12(15):1823-37 2003
PubMed ID: 12874103
 
McBride OW, Zmudzka BZ, Wilson SH, Chromosomal location of the human gene for DNA polymerase beta. Proc Natl Acad Sci U S A84:503-7 1987
PubMed ID: 3467369
 
Haluska FG, Finver S, Tsujimoto Y, Croce CM, The t(8; 14) chromosomal translocation occurring in B-cell malignancies results from mistakes in V-D-J joining. Nature324:158-61 1986
PubMed ID: 3097550
 
McBride OW, Merry D, Givol D, The gene for human p53 cellular tumor antigen is located on chromosome 17 short arm (17p13). Proc Natl Acad Sci U S A83:130-4 1986
PubMed ID: 3001719
 
Macintyre MN, Hempel JM, Walden DB, Miller RC, Greene AE, Coriell LL, A (17;22) translocation, balanced, 46 chromosomes. Repository identification No. GM-119. Cytogenet Cell Genet14:80-1 1975
PubMed ID: 1132250
 
Macintyre MN, Walden DB, Hempel JM, Tertiary trisomy in a human kindred containing an E/G translocation. Am J Hum Genet23:431-41 1971
PubMed ID: 5092595

External Links

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dbSNP dbSNP ID: 19785

Culture Protocols

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Passage Frozen 5
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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