AG04103

AG04103 LCL from B-Lymphocyte

Description:

WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
RECQ PROTEIN-LIKE 2; RECQL2
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES
NIA AGING CELL REPOSITORY DNA PANEL - CHARACTERIZED MUTATIONS

Affected:

Yes

Sex:

Female

Age:

37 YR (At Sampling)

Overview

Repository

NIA Aging Cell Culture Repository

Subcollection

Heritable Diseases

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

PUERTO RICAN

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

The donor had features of diabetes, cataracts, sclerodermatous-like skin, prematurely white hair; nonhealing skin ulcers and arteriosclerotic cardiovascular disease. The culture was initiated on 5/23/80 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The culture is a mosaic with karyotype: 46,XX/47,XX,+9; unbalanced; 36%/64%. The donor subject is homozygous for a C>T transition at nucleotide 1336 in exon 9 of the RECQL2 gene (1336C>T) resulting in an amino acid change at codon 368 from arginine to a stop codon [Arg368Ter (R368X)]. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Chromosome Analysis

Gene

RECQL2

Chromosomal Location

8p12-p11.2

Allelic Variant 1

604611.0006; WERNER SYNDROME

Identified Mutation

ARG368TER; In 1 Caucasian and 3 Japanese patients with Werner syndrome (277700), Oshima et al. [Hum. Molec. Genet. 5: 1909-1913 (1996)] first reported this mutation (1336C-T), located in exon 9 of the WRN gene, that was predicted to produce a truncated protein lacking WRN helicase function.

Gene

RECQL2

Chromosomal Location

8p12-p11.2

Allelic Variant 2

604611.0006; WERNER SYNDROME

Identified Mutation

Phenotypic Data

Remarks

Publications

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 2021

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

Johnson FB, Lombard DB, Neff NF, Mastrangelo MA, Dewolf W, Ellis NA, Marciniak RA, Yin Y, Jaenisch R, Guarente L, Association of the Bloom syndrome protein with topoisomerase IIIalpha in somatic and meiotic cells. Cancer Res60(5):1162-7 2000

PubMed ID: 10728666

Balajee AS, Machwe A, May A, Gray MD, Oshima J, Martin GM, Nehlin JO, Brosh R, Orren DK, Bohr VA, The Werner syndrome protein is involved in RNA polymerase II transcription. Mol Biol Cell10:2655-68 1999

PubMed ID: 10436020

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

Yu CE, Oshima J, Wijsman EM, Nakura J, Miki T, Piussan C, Matthews S, Fu YH, Mulligan J, Martin GM, Schellenberg GD, Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group. Am J Hum Genet60(2):330-41 1997

PubMed ID: 9012406