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GM01774 Fibroblast

Description:

DYSKERATOSIS CONGENITA, X-LINKED; DKC
DYSKERIN; DKC1

Affected:

Yes

Sex:

Male

Age:

7 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 Heritable Diseases
Class Other Disorders of Known Biochemistry
Cell Type Fibroblast
Transformant Untransformed
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Leukoplakia tongue; dysplastic fingernails and toenails; increased chromosome instability in BrdU treated fibroblasts; hypersensitive to mitomycin-C induced cell killing; donor subject is hemizygous for an in frame 3 bp deletion of nucleotides 201_203 of the DKC1 gene (201_203delCTT) resulting in the deletion of leucine at position 37 [Leu37del]; maternal grandfather was also affected; see GM01775A Lymphoid.

Characterizations

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PDL at Freeze 1.96
Passage Frozen 6
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
REPAIR OF UV- OR X RAY-IRRADIATED DNA OR ALKYLATED DNA DeBauche et al (Am J Hum Genet 46:350-357,1990) reported that examination of the frequency and specificity of X-irradiation-induced G2 chromatid breakage in fibroblasts from this dyskeratosis congenita patient showed that metaphase cells had significantly more chromatid breaks and chromatid gaps than controls. Analysis of banded chromosomes revealed a nonrandom distribution of chromatid aberrations in the patient versus controls. A distribution corresponding to some of the known breakpoints for cancer-specific rearrangements, constitutive fragile sites, and/or loci for cellular proto-oncogenes was observed.
 
Gene DKC1
Chromosomal Location Xq28
Allelic Variant 1 300126.0002; DYSKERATOSIS CONGENITA, X-LINKED
Identified Mutation LEU37 DEL; In a patient with dyskeratosis congenita, Heiss et al. (1998) found deletion of nucleotides 201 to 203 (CTT), leading to deletion of leucine-37 from dyskerin.

Phenotypic Data

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Remarks Leukoplakia tongue; dysplastic fingernails and toenails; increased chromosome instability in BrdU treated fibroblasts; hypersensitive to mitomycin-C induced cell killing; donor subject is hemizygous for an in frame 3 bp deletion of nucleotides 201_203 of the DKC1 gene (201_203delCTT) resulting in the deletion of leucine at position 37 [Leu37del]; maternal grandfather was also affected; see GM01775A Lymphoid.

Publications

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Taoka M, Nobe Y, Yamaki Y, Sato K, Ishikawa H, Izumikawa K, Yamauchi Y, Hirota K, Nakayama H, Takahashi N, Isobe T, Landscape of the complete RNA chemical modifications in the human 80S ribosome Nucleic acids research46:9289-9298 2018
PubMed ID: 30202881
 
Agarwal S, Loh YH, McLoughlin EM, Huang J, Park IH, Miller JD, Huo H, Okuka M, Dos Reis RM, Loewer S, Ng HH, Keefe DL, Goldman FD, Klingelhutz AJ, Liu L, Daley GQ, Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients Nature464(7286):292-6 2010
PubMed ID: 20164838
 
Bellodi C, Kopmar N, Ruggero D, Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita The EMBO journal29:1865-76 2009
PubMed ID: 20453831
 
Wong JM, Collins K, Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita Genes & development20:2848-58 2006
PubMed ID: 17015423
 
Wong JM, Kusdra L, Collins K, Subnuclear shuttling of human telomerase induced by transformation and DNA damage. Nat Cell Biol4(9):731-6 2002
PubMed ID: 12198499
 
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
 
Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I, X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions Nat Genet19:32-8 1998
PubMed ID: 9590285
 
DeBauche DM, Pai GS, Stanley WS, Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts. Am J Hum Genet46:350-7 1990
PubMed ID: 2301400
 
Nagasawa H, Little JB, Suppression of cytotoxic effect of mitomycin-C by superoxide dismutase in Fanconi's anemia and dyskeratosis congenita fibroblasts. Carcinogenesis4:795-9 1983
PubMed ID: 6409437
 
Paterson, Gamma-ray hypersensitivity and faulty DNA repair in cultured cells from humans exhibiting familial cancer proneness. Proc 6th Int Cong Rad Res, Tokyo(1979) p 484:795-9 1979
PubMed ID: 6409437

External Links

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dbSNP dbSNP ID: 18722
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
GEO GEO Accession No: GSM1464222
GEO Accession No: GSM1464223
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

Images

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View pedigree 

Culture Protocols

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Cumulative PDL at Freeze 4.81
Passage Frozen 6
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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