Description:
WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
RECQ PROTEIN-LIKE 2; RECQL2
DERIVATIVE CHROMOSOME
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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Race
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Asian
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Ethnicity
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JAPANESE
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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, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
RECQL2 |
| Chromosomal Location |
8p12-p11.2 |
| Allelic Variant 1 |
604611.0004; WERNER SYNDROME |
| Identified Mutation |
IVS25DS, G>C, -1, FS1061TER; In a Japanese patient with Werner syndrome (277700), Yu et al. [Science 272: 258-262 (1996)] detected a G-to-C transversion in the WRN gene that changed a splice donor sequence from ApG to ApC, resulting in a frameshift of codons 1078 to 1092. The premature stop codon which is a consequence of this frameshift results in a predicted 1060-amino acid truncated protein. |
| |
| Gene |
RECQL2 |
| Chromosomal Location |
8p12-p11.2 |
| Allelic Variant 2 |
604611.0004; WERNER SYNDROME |
| Identified Mutation |
IVS25DS, G>C, -1, FS1061TER; In a Japanese patient with Werner syndrome (277700), Yu et al. [Science 272: 258-262 (1996)] detected a G-to-C transversion in the WRN gene that changed a splice donor sequence from ApG to ApC, resulting in a frameshift of codons 1078 to 1092. The premature stop codon which is a consequence of this frameshift results in a predicted 1060-amino acid truncated protein. |
| Remarks |
JO1050: 57 year old Japanese male of first cousin marriage. Cataracts, tight skin, short stature, type II diabetes mellitus, osteoporosis, high pitched voice, flat feet. Homozygous mutation at WRN locus: a G to C transversion in the RECQL2 gene changes a splice donor sequence from ApG to ApC, resulting in a frameshift of codons 1078 to 1092 and a skipping of exon 26. The mutation is designated IVS25-1G>C. The karyotype is 46,XY, der(8)(8qter>8p11::12q11>12qter), +mar with 2% of the cells examined showing random chromosome loss and 2% showing random chromosomal aberrations. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Tavakoli Shirazi P, Leifert WR, Fenech MF, François M, Folate modulates guanine-quadruplex frequency and DNA damage in Werner syndrome Mutation research826:47-52 2017 |
| PubMed ID: 29412869 |
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| Oshima J, Yu CE, Piussan C, Klein G, Jabkowski J, Balci S, Miki T, Nakura J,
Ogihara T, Ells J, Smith M, Melaragno MI, Fraccaro M, Scappaticci S, Matthews J,
Ouais S, Jarzebowicz A, Schellenberg GD, Martin GM, Homozygous and compound heterozygous mutations at the Werner syndrome locus. Hum Mol Genet5(12):1909-13 1996 |
| PubMed ID: 8968742 |
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