GM03195
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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3
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Relation to Proband
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brother
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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)] |
| 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 |
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| Wong JM, Kyasa MJ, Hutchins L, Collins K, Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita Human genetics115:448-55 2004 |
| PubMed ID: 15349768 |
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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 |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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