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GM02324 LCL from B-Lymphocyte

Description:

TRANSLOCATED CHROMOSOME

Affected:

No Data

Sex:

Female

Age:

27 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Family Member 2
Relation to Proband mother
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 46,XX,9qh+,t(16;22)(16qter>16p13.11::22q11.21 >22qter;22pter>22q11.21::16p13.11> 16pter)
Species Homo sapiens
Common Name Human
Remarks Mother of GM02325 Fibroblast

Characterizations

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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
 
Cytogenetics Chromosome 16: TRANSLOCATION Breakpoint 16p13 t(16;22)16p13
Chromosome 22: TRANSLOCATION Breakpoint 22q11 t(16;22)22q11

Phenotypic Data

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Remarks Mother of GM02325 Fibroblast

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
 
Dauwerse JG, Wessels JW, Giles RH, Wiegant J, van der Reijden BA, Fugazza G, Jumelet EA, Smit E, Baas F, Raap AK, et al, Cloning the breakpoint cluster region of the inv(16) in acute nonlymphocytic leukemia M4 Eo. Hum Mol Genet2:1527-34 1993
PubMed ID: 8268905
 
Germino GG, Barton NJ, Lamb J, Higgs DR, Harris P, Xiao GH, Scherer G, Nakamura Y, Reeders ST, Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16. Am J Hum Genet46:925-33 1990
PubMed ID: 2339691
 
Kievits T, Dauwerse JG, Wiegant J, Devilee P, Breuning MH, Cornelisse CJ, van Ommen GJ, Pearson PL, Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization. Cytogenet Cell Genet53:134-6 1990
PubMed ID: 2369840
 
Mulley JC, Barton N, Callen DF, Localisation of human PGP and HAGH genes to 16p13.3. Cytogenet Cell Genet53:175-6 1990
PubMed ID: 2164460
 
Nicholls RD, Jonasson JA, McGee JO, Patil S, Ionasescu VV, Weatherall DJ, Higgs DR, High resolution gene mapping of the human alpha globin locus. J Med Genet24:39-46 1987
PubMed ID: 2879933
 
Simmers RN, Mulley JC, Hyland VJ, Callen DF, Sutherland GR, Mapping the human alpha globin gene complex to 16p13.2----pter. J Med Genet24:761-6 1987
PubMed ID: 3430555
 
Fukushige S, Matsubara K, Yoshida M, Sasaki M, Suzuki T, Semba K, Toyoshima K, Yamamoto T, Localization of a novel v-erbB-related gene, c-erbB-2, on human chromosome 17 and its amplification in a gastric cancer cell line. Mol Cell Biol6:955-8 1986
PubMed ID: 2430175

External Links

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dbSNP dbSNP ID: 19452

Images

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View pedigree 

Culture Protocols

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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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