AG07066
Fibroblast from Skin, Skin
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 |
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Biopsy Source
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Skin
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Simian Virus 40
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Sample Source
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Fibroblast from Skin, Skin
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Race
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Asian
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Ethnicity
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JAPANESE
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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42~45,del(X)(q12), der(X)t(X;13)(p11.1;q11),add(X)(q?),del(2)(q11.1), der(3)t(2;3)(q23;p21),del(4)(q33),del(5)(p13),+del(5)(q11.1),dic(6;21)(q27;p11.2), del(7)(q22),-8, der(9)del(9)(p21)add(9)(q34),add(10)(p11.1),-11,der(11)del(11)(p11.1)add(11)(q23),add(12)(p13),-13,-13,del(14)(q24),-18, del(19)(q13.3), -20,add(20)(q13.3),-21,-21,+4~6 mar [cp10]
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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 Chromosome Analysis |
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| Gene |
RECQL2 |
| Chromosomal Location |
8p12-p11.2 |
| Allelic Variant 1 |
F1074L; WERNER SYNDROME |
| Identified Mutation |
PHE1074LEU |
| Remarks |
AG07066B is an SV40 virus-transformed permanent line, PSV 811, that was initiated by transformation of a skin fibroblast culture from a Werner syndrome patient at PDL 3 with SV40 virus strain 777. The culture entered crisis at PDL 56 and is frozen at approximately 84 population doublings after crisis. The cell morphology is epithelial-like. The karyotype is abnormal with chromosome number broadly distributed in diploid range. Cell line contains the following polymorphism: a leucine for phenylalanine replacement at amino acid 1074 of the WRN protein {PHE1074LEU(F1074L)}. Protein is wild type. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Johnson FB, Marciniak RA, McVey M, Stewart SA, Hahn WC, Guarente L, The Saccharomyces cerevisiae WRN homolog Sgs1p participates in telomere maintenance in cells lacking telomerase EMBO J20(4):905-13 2001 |
| PubMed ID: 11179234 |
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| Hisama FM, Chen YH, Meyn MS, Oshima J, Weissman SM, WRN or telomerase constructs reverse 4-nitroquinoline 1-oxide sensitivity in transformed Werner syndrome fibroblasts. Cancer Res60(9):2372-6 2000 |
| PubMed ID: 10811112 |
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| 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 |
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| Sipley JD, Menninger JC, Hartley KO, Ward DC, Jackson SP, Anderson CW, Gene for the catalytic subunit of the human DNA-activated protein kinase maps to the site of the XRCC7 gene on chromosome 8. Proc Natl Acad Sci U S A92:7515-9 1995 |
| PubMed ID: 7638222 |
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| Matsumura, Studies of SV40-infected Werner syndrome fibroblasts (from Werner's Syndrome and Human Aging, Plenum Publishing Corp, Salk, Fujiwara, & Martin eds). "Werner's Syndrome & Human Aging"1985, pp313:7515-9 1985 |
| PubMed ID: 7638222 |
| Split Ratio |
1:10 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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