Description:
WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES
|
Repository
|
NIA Aging Cell Culture Repository
|
| Subcollection |
Heritable Diseases |
| Quantity |
10ug |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XX
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Gene |
RECQL2 |
| Chromosomal Location |
8p12-p11.2 |
| Allelic Variant 1 |
F1074L; WERNER SYNDROME |
| Identified Mutation |
PHE1074LEU |
| |
| Gene |
RECQL2 |
| Chromosomal Location |
8p12-p11.2 |
| Allelic Variant 2 |
C1367R; WERNER SYNDROME |
| Identified Mutation |
CYS1367ARG |
| Remarks |
The affected donor had features of short stature, thin skin, flat feet, increased serum triglycerides, baldness and juvenile cataracts. Her unaffected parents are first cousins and the family history is negative. The culture was initiated on 9/18/84. The cells grow in suspension and their morphology is spherical. The karyotype is 46,XX; normal diploid female. This cell line contains two polymorphisms: a leucine for phenylalanine replacement at amino acid 1074 of the WRN protein {PHE1074LEU(F1074L)} and an arginine for cysteine substitution at amino acid 1367 {CYS1367ARG (C1367R)}. The protein is wild type. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Bracci AN, Dallmann A, Ding Q, Hubisz MJ, Caballero M, Koren A, The evolution of the human DNA replication timing program Proceedings of the National Academy of Sciences of the United States of America120:e2213896120 2023 |
| PubMed ID: 36848554 |
| |
| Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics120:e2213896120 2022 |
| PubMed ID: 35394024 |
| |
| 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 |
| |
| Heyn H, Moran S, Esteller M, Aberrant DNA methylation profiles in the premature aging disorders Hutchinson-Gilford Progeria and Werner syndrome. Epigenetics8(1):28-33 2013 |
| PubMed ID: 23257959 |
| |
| Caburet S, Conti C, Schurra C, Lebofsky R, Edelstein SJ, Bensimon A, Human ribosomal RNA gene arrays display a broad range of palindromic structures Genome research15:1079-85 2005 |
| PubMed ID: 16024823 |
| |
| Marciniak RA, Lombard DB, Johnson FB, Guarente L, Nucleolar localization of the Werner syndrome protein in human cells. Proc Natl Acad Sci U S A95(12):6887-92 1998 |
| PubMed ID: 9618508 |
|