NG24467
DNA from Fibroblast
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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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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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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| PDL at Freeze |
4.37 |
| Passage Frozen |
7 |
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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 |
ASN1197FS |
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| Gene |
WRN |
| Chromosomal Location |
8p12-p11.2 |
| Allelic Variant 2 |
; WERNER SYNDROME |
| Identified Mutation |
ASN1197FS |
| Remarks |
Donor is a 39 year old Caucasian male with classical features of Werner Syndrome. Symptoms include bilateral cataracts, short stature, tight atrophic skin, gray hair/hair loss, diabetes, and osteoporosis. Donor is homozygous for WRN mutation, c.3590delA; p.Asn1197fs. A lymphoblastoid cell line from the same donor is AG24466. |
| Della Valle F, Reddy P, Yamamoto M, Liu P, Saera-Vila A, Bensaddek D, Zhang H, Prieto Martinez J, Abassi L, Celii M, Ocampo A, Nuñez Delicado E, Mangiavacchi A, Aiese Cigliano R, Rodriguez Esteban C, Horvath S, Izpisua Belmonte JC, Orlando V, LINE-1 RNA causes heterochromatin erosion and is a target for amelioration of senescent phenotypes in progeroid syndromes Science translational medicine14:eabl6057 2022 |
| PubMed ID: 35947677 |
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