Description:
WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
RECQ PROTEIN-LIKE 2; RECQL2
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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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White
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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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ISCN
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46,XY[96]/46,XY,t(13;16)(13pter>13q14::16q24>16qter;16pter>16q24::13q24>13qter)[4]
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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 |
loss of exons 19-23; WERNER SYNDROME |
| Identified Mutation |
deletion of >15kb within IVS18 and IVS23 |
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| Gene |
RECQL2 |
| Chromosomal Location |
8p12-p11.2 |
| Allelic Variant 2 |
R889X; WERNER SYNDROME |
| Identified Mutation |
ARG889TER |
| Remarks |
SUG17802: 45 year old Ashkenazi Jew originally from Germany. Bilateral ocular cataracts, tight atrophic skin with ulceration, short stature, premature graying and thinning of hair, type II diabetes mellitus, hypogonadism, marked soft tissue calcification, high pitched voice, flat feet. The donor subject is a compound heterozygote; one allele of the RECQL2 gene has a large deletion >15kb within IVS18 and IVS23 which results in a loss of exons 19-23, a frameshift and truncation, and the other allele has a nonsense mutation at amino acid 889 due to a C to T transition at nucleotide 2896 in exon 20 (2896C>T) resulting in Arg(CGA)>Ter(TGA) [ARG889TER(R889X)]. The culture is a mosaic with karyotype: 46,XY[96]/46,XY,t(13;16)(13pter>13q14::16q24>16qter;16pter>16q24::13q24>13qter)[4] with 6% of the cells examined showing random chromosome loss/gain. 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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