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GM03193 LCL from B-Lymphocyte

Description:

DYSKERATOSIS CONGENITA, X-LINKED; DKC
DYSKERIN; DKC1

Affected:

Yes

Sex:

Male

Age:

15 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Other Disorders of Known Biochemistry
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity DUTCH/WELSH
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Mild anisopoikilocytosis and mild oval macrocytosis; 2 affected brothers and 3 affected maternal uncles; donor subject is hemizygous for an A>G transition at nucleotide 193 in exon 4 of the DKC1 gene resulting in the substitution of alanine for threonine at codon 66 [Thr66Ala (T66A)]

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
Gene DKC1
Chromosomal Location Xq28
Allelic Variant 1 T66A; DYSKERATOSIS CONGENITA, X-LINKED
Identified Mutation THR66ALA

Phenotypic Data

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Remarks Mild anisopoikilocytosis and mild oval macrocytosis; 2 affected brothers and 3 affected maternal uncles; donor subject is hemizygous for an A>G transition at nucleotide 193 in exon 4 of the DKC1 gene resulting in the substitution of alanine for threonine at codon 66 [Thr66Ala (T66A)]

Publications

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Carrillo J, Martínez P, Solera J, Moratilla C, González A, Manguán-García C, Aymerich M, Canal L, Del Campo M, Dapena JL, Escoda L, García-Sagredo JM, Martín-Sala S, Rives S, Sevilla J, Sastre L, Perona R, High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita Blood cells, molecules & diseases: 2012
PubMed ID: 22664374
 
Montanaro L, Tazzari PL, Derenzini M, Enhanced telomere shortening in transformed lymphoblasts from patients with X linked dyskeratosis Journal of clinical pathology56:583-6 2003
PubMed ID: 12890806
 
Montanaro L, Chilla A, Trere D, Pession A, Govoni M, Tazzari PL, Derenzini M, Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines. J Invest Dermatol118(1):193-8 2002
PubMed ID: 11851894
 
Hassock S, Vetrie D, Giannelli F, Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene. Genomics55(1):21-7 1999
PubMed ID: 9888995
 
Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stavrides G, Pai GS, Lestringant G, Varma N, Mason PJ, Dokal I, Poustka A, X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Hum Genet65(1):50-8 1999
PubMed ID: 10364516
 
Mitchell JR, Wood E, Collins K, A telomerase component is defective in the human disease dyskeratosis congenita. Nature402(6761):551-5 1999
PubMed ID: 10591218
 
Knight SW, Vulliamy TJ, Heiss NS, Matthijs G, Devriendt K, Connor JM, D'Urso M, Poustka A, Mason PJ, Dokal I, 1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis. J Med Genet35(12):993-6 1998
PubMed ID: 9863595
 
Trowbridge AA, Sirinavin C, Linman JW, Dyskeratosis congenita: hematologic evaluation of a sibship and review of the literature. Am J Hematol3:143-52 1977
PubMed ID: 602933

External Links

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dbSNP dbSNP ID: 10620
Gene Cards DKC1
Gene Ontology GO:0000074 regulation of cell cycle
GO:0000781 chromosome, telomeric region
GO:0003720 telomerase activity
GO:0003723 RNA binding
GO:0004730 pseudouridylate synthase activity
GO:0005654 nucleoplasm
GO:0005697 telomerase holoenzyme complex
GO:0005730 nucleolus
GO:0006364 rRNA processing
GO:0007004 telomerase-dependent telomere maintenance
GO:0008283 cell proliferation
NCBI Gene Gene ID:1736
NCBI GTR 300126 DYSKERIN; DKC1
305000 DYSKERATOSIS CONGENITA, X-LINKED; DKCX
OMIM 300126 DYSKERIN; DKC1
305000 DYSKERATOSIS CONGENITA, X-LINKED; DKCX
Omim Description DYSKERATOSIS CONGENITA; DKC
  ZINSSER-COLE-ENGMAN SYNDROME

Culture Protocols

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Split Ratio 1:3
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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