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GM08729 LCL from B-Lymphocyte

Description:

IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
APPARENTLY HEALTHY INDIVIDUAL

Affected:

No

Sex:

Male

Age:

30 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
Class Syndromes with Increased Chromosome Breakage
Alternate IDs GM17282 [IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME]
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 3
Relation to Proband father
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically normal; normal 46,XY karyotype

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
 

Phenotypic Data

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Remarks Clinically normal; normal 46,XY karyotype

Publications

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Toubiana S1, Velasco G2, Chityat A1, Kaindl AM3, Hershtig N4, Tzur-Gilat A1, Francastel C2, Selig S1., Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome Human Molecular Genetics: 2018
PubMed ID: 30010917
 
Yehezkel S, Segev Y, Viegas-Péquignot E, Skorecki K, Selig S, Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions Human molecular genetics: 2008
PubMed ID: 18558631
 
Jin B, Tao Q, Peng J, Soo HM, Wu W, Ying J, Fields CR, Delmas AL, Liu X, Qiu J, Robertson KD, DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function Human molecular genetics17:690-709 2007
PubMed ID: 18029387
 
Roizès G, Human centromeric alphoid domains are periodically homogenized so that they vary substantially between homologues Mechanism and implications for centromere functioning Nucleic acids research34:1912-24 2006
PubMed ID: 16598075
 
Small KM, Brown KM, Seman CA, Theiss CT, Liggett SB, Complex haplotypes derived from noncoding polymorphisms of the intronless alpha2A-adrenergic gene diversify receptor expression Proceedings of the National Academy of Sciences of the United States of America103:5472-7 2006
PubMed ID: 16567612
 
Sha MY, Walton ID, Norton SM, Taylor M, Yamanaka M, Natan MJ, Xu C, Drmanac S, Huang S, Borcherding A, Drmanac R, Penn SG, Multiplexed SNP genotyping using nanobarcode particle technology Analytical and bioanalytical chemistry384:658-66 2005
PubMed ID: 16421712
 
Narayan A, Tuck-Muller C, Weissbecker K, Smeets D, Ehrlich M, Hypersensitivity to radiation-induced non-apoptotic and apoptotic death in cell lines from patients with the ICF chromosome instability syndrome Mutation research456:1-15 2000
PubMed ID: 11087891
 
Tuck-Muller CM, Narayan A, Tsien F, Smeets DF, Sawyer J, Fiala ES, Sohn OS, Ehrlich M, DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients Cytogenetics and cell genetics89:121-8 2000
PubMed ID: 10894953
 
Hansen RS, Wijmenga C, Luo P, Stanek AM, Canfield TK, Weemaes CM, Gartler SM, The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc Natl Acad Sci U S A96:14412-7 1999
PubMed ID: 10588719
 
Okano M, Bell DW, Haber DA, Li E, DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell99(3):247-57 1999
PubMed ID: 10555141

External Links

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dbSNP dbSNP ID: 11135
GEO GEO Accession No: GSM241000
GEO Accession No: GSM241001
GEO Accession No: GSM241002
GEO Accession No: GSM241022
GEO Accession No: GSM241023
GEO Accession No: GSM241024
NCBI GTR 242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1; ICF1
OMIM 242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1; ICF1
Omim Description CENTROMERIC INSTABILITY, IMMUNODEFICIENCY SYNDROME; CIID
  ICF SYNDROME
  IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES1, 9, AND 16
  IMMUNODEFICIENCY SYNDROME, VARIABLE
  IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME

Culture Protocols

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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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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