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AG00780 Fibroblast from Skin, Skin

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

Affected:

Yes

Sex:

Male

Age:

60 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Heritable Diseases
Biopsy Source Skin
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Skin
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks The donor's parents are second cousins. The donor had features of sclerodactyly (onset at age 24), marked bowing of legs, bilateral cataracts, premature graying of the hair, hypogonadism, impotence, progressive degenerative joint disease, high-pitched voice, and progressive peripheral insufficiency and cutaneous ulcers resulting in lumbar sympathectomy. Donor died at age 63 due to gastrointestinal tract hemorrhage, peritonitis, and acute respiratory distress. The biopsy was taken ante-mortem on 4/4/80. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblast-like. The culture is a mosaic with karyotype: 46,XY/46,XY,inv(5)(q11.2q22)/46,XY,inv(5)(q11.2q22),t(8;16)(q24.1;q24), t(9;15)(p13;q15),inv(11)(q21q23); 24%/22%/10% with 44% of cells examined showing other chromosomal abnormalities. 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

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PDL at Freeze 5.11
Passage Frozen 5
 
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 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 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.

Phenotypic Data

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Remarks The donor's parents are second cousins. The donor had features of sclerodactyly (onset at age 24), marked bowing of legs, bilateral cataracts, premature graying of the hair, hypogonadism, impotence, progressive degenerative joint disease, high-pitched voice, and progressive peripheral insufficiency and cutaneous ulcers resulting in lumbar sympathectomy. Donor died at age 63 due to gastrointestinal tract hemorrhage, peritonitis, and acute respiratory distress. The biopsy was taken ante-mortem on 4/4/80. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblast-like. The culture is a mosaic with karyotype: 46,XY/46,XY,inv(5)(q11.2q22)/46,XY,inv(5)(q11.2q22),t(8;16)(q24.1;q24), t(9;15)(p13;q15),inv(11)(q21q23); 24%/22%/10% with 44% of cells examined showing other chromosomal abnormalities. 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.

Publications

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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
 
Tu J, Wan C, Zhang F, Cao L, Law PWN, Tian Y, Lu G, Rennert OM, Chan WY, Cheung HH, Genetic correction of Werner syndrome gene reveals impaired pro-angiogenic function and HGF insufficiency in mesenchymal stem cells Aging cell14:e13116 2019
PubMed ID: 32320127
 
Wang S, Liu Z, Ye Y, Li B, Liu T, Zhang W, Liu GH, Zhang YA, Qu J, Xu D, Chen Z, Ectopic hTERT expression facilitates reprograming of fibroblasts derived from patients with Werner syndrome as a WS cellular model Cell death & disease9:923 2017
PubMed ID: 30206203
 
Li B, Jog SP, Reddy S, Comai L, WRN controls formation of extrachromosomal telomeric circles and is required for TRF2DeltaB-mediated telomere shortening Molecular and cellular biology28:1892-904 2008
PubMed ID: 18212065
 
Marciniak RA, Cavazos D, Montellano R, Chen Q, Guarente L, Johnson FB, A novel telomere structure in a human alternative lengthening of telomeres cell line. Cancer Res65(7):2730-7 2005
PubMed ID: 15805272
 
Baird DM, Davis T, Rowson J, Jones CJ, Kipling D, Normal telomere erosion rates at the single cell level in Werner syndrome fibroblast cells. Hum Mol Genet13(14):1515-24 2004
PubMed ID: 15150162
 
Taylor TJ, Knipe DM, Proteomics of herpes simplex virus replication compartments: association of cellular DNA replication, repair, recombination, and chromatin remodeling proteins with ICP8 J Virol78(11):5856-66 2004
PubMed ID: 15140983
 
Grandori C, Wu KJ, Fernandez P, Ngouenet C, Grim J, Clurman BE, Moser MJ, Oshima J, Russell DW, Swisshelm K, Frank S, Amati B, Dalla-Favera R, Monnat RJ Jr., Werner syndrome protein limits MYC-induced cellular senescence. Genes Dev17(13):1569-74 2003
PubMed ID: 12842909
 
von Kobbe C, Harrigan JA, May A, Opresko PL, Dawut L, Cheng WH, Bohr VA, Central role for the Werner syndrome protein/poly(ADP-ribose) polymerase 1 complex in the poly(ADP-ribosyl)ation pathway after DNA damage. Mol Cell Biol23(23):8601-13 2003
PubMed ID: 14612404
 
Blander G, Zalle N, Daniely Y, Taplick J, Gray MD, Oren M, DNA damage-induced translocation of the Werner helicase is regulated by acetylation. J Biol Chem277(52):50934-40 2002
PubMed ID: 12384494
 
Choi D, Whittier PS, Oshima J, Funk WD, Telomerase expression prevents replicative senescence but does not fully reset mRNA expression patterns in Werner syndrome cell strains. FASEB J15(6):1014-20 2001
PubMed ID: 11292662
 
Pichierri P, Franchitto A, Mosesso P, Palitti F, Werner's syndrome protein is required for correct recovery after replication arrest and DNA damage induced in S-phase of cell cycle. Mol Biol Cell12(8):2412-21 2001
PubMed ID: 11514625
 
Blander G, Zalle N, Leal JF, Bar-Or RL, Yu CE, Oren M, The Werner syndrome protein contributes to induction of p53 by DNA damage. FASEB J14(14):2138-40 2000
PubMed ID: 11023999
 
Machwe A, Orren DK, Bohr VA, Accelerated methylation of ribosomal RNA genes during the cellular senescence of Werner syndrome fibroblasts. FASEB J14(12):1715-24 2000
PubMed ID: 10973920
 
Spillare EA, Robles AI, Wang XW, Shen JC, Yu CE, Schellenberg GD, Harris CC, p53-mediated apoptosis is attenuated in Werner syndrome cells. Genes Dev13:1355-60 1999
PubMed ID: 10364153
 
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
 
Dimri GP, Lee X, Basile G, Acosta M, Scott G, Roskelley C, Medrano EE, Linskens M, Rubelj I, Pereira-Smith O, et al, A biomarker that identifies senescent human cells in culture and in aging skin in vivo. Proc Natl Acad Sci U S A92:9363-7 1995
PubMed ID: 7568133
 
Saito H, Moses RE, Immortalization of Werner syndrome and progeria fibroblasts Experimental cell research192:373-9 1991
PubMed ID: 1671011
 
Winkles JA, O'Connor ML, Friesel R, Altered regulation of platelet-derived growth factor A-chain and c-fos gene expression in senescent progeria fibroblasts. J Cell Physiol144:313-25 1990
PubMed ID: 2166059
 
Bauer EA, Uitto J, Tan EM, Holbrook KA, Werner's syndrome. Evidence for preferential regional expression of a generalized mesenchymal cell defect. Arch Dermatol124:90-101 1988
PubMed ID: 3337548
 
Cowles EA, Brauker JH, Anderson RL, Turnover of sulfated glycosaminoglycans in fibroblasts derived from patients with Werner's syndrome. Exp Cell Res168:347-57 1987
PubMed ID: 3100317
 
Oliver CN, Ahn BW, Moerman EJ, Goldstein S, Stadtman ER, Age-related changes in oxidized proteins. J Biol Chem262:5488-91 1987
PubMed ID: 3571220
 
Bauer EA, Silverman N, Busiek DF, Kronberger A, Deuel TF, Diminished response of Werner's syndrome fibroblasts to growth factors PDGF and FGF. Science234:1240-3 1986
PubMed ID: 3022382
 
Chapman ML, Zaun MR, Gracy RW, Changes in NAD levels in human lymphocytes and fibroblasts during aging and in premature aging syndromes. Mech Ageing Dev21:157-67 1983
PubMed ID: 6223188
 
Puvion-Dutilleul F, Macieira-Coelho A, Aging dependent nucleolar and chromatin changes in cultivated fibroblasts. Cell Biol Int Rep7:61-71 1983
PubMed ID: 6831570
 
Tollefsbol TO, Zaun MR, Gracy RW, Increased lability of triosephosphate isomerase in progeria and Werner's syndrome fibroblasts. Mech Ageing Dev20:93-101 1982
PubMed ID: 7176709

External Links

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dbSNP dbSNP ID: 10063
Gene Cards RECQL2
WRN
Gene Ontology GO:0003677 DNA binding
GO:0003678 DNA helicase activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0006259 DNA metabolism
GO:0007568 aging
GO:0008026 ATP-dependent helicase activity
GO:0008408 3'-5' exonuclease activity
GO:0016787 hydrolase activity
GEO GEO Accession No: GSM1184264
GEO Accession No: GSM1184265
GEO Accession No: GSM1184288
GEO Accession No: GSM1184289
GEO Accession No: GSM1184290
GEO Accession No: GSM1184291
NCBI Gene Gene ID:7486
NCBI GTR 277700 WERNER SYNDROME; WRN
604611 RECQ PROTEIN-LIKE 2; RECQL2
OMIM 277700 WERNER SYNDROME; WRN
604611 RECQ PROTEIN-LIKE 2; RECQL2
Omim Description WERNER SYNDROME; WRNREPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED

Culture Protocols

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Cumulative PDL at Freeze 9.11
Passage Frozen 5
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
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