GM03193
LCL from B-Lymphocyte
Description:
DYSKERATOSIS CONGENITA, X-LINKED; DKC
DYSKERIN; DKC1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Ethnicity
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DUTCH/WELSH
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
DKC1 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
T66A; DYSKERATOSIS CONGENITA, X-LINKED |
| Identified Mutation |
THR66ALA |
| 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)] |
| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
| 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 |
- |
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