Description:
WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
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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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Cell Type
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B-Lymphocyte
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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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Ethnicity
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Not Hispanic/Latino
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Family History
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N
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 LINE assay |
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| Gene |
WRN |
| Chromosomal Location |
8p12-p11.2 |
| Allelic Variant 1 |
; WERNER SYNDROME |
| Identified Mutation |
LEU528FS |
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| Gene |
WRN |
| Chromosomal Location |
8p12-p11.2 |
| Allelic Variant 2 |
; WERNER SYNDROME |
| Identified Mutation |
ARG741X |
| Remarks |
Donor is a 47 year old Caucasian male with classical features of Werner Syndrome. Symptoms include bilateral cataracts, short stature, tight atrophic skin, gray hair/loss of hair, and soft tissue calcification. Donor is a compound heterozygote of WRN mutations, c.1578delC;p.L528fs and c.2221C>T;p.R741X. A fibroblast cell line from the same donor is AG24464. |
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