NG18371
DNA from Fibroblast
Description:
ROTHMUND-THOMSON SYNDROME; RTS
RECQ PROTEIN-LIKE 4; RECQL4
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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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Hispanic/Latino
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Ethnicity
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MEXICAN
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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ISCN
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46,XY[16]
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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 |
6.57 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
RECQL4 |
| Chromosomal Location |
8q24.3 |
| Allelic Variant 1 |
; ROTHMUND-THOMSON SYNDROME |
| Identified Mutation |
g.2746del11 |
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| Gene |
RECQL4 |
| Chromosomal Location |
8q24.3 |
| Allelic Variant 2 |
; ROTHMUND-THOMSON SYNDROME |
| Identified Mutation |
g.2746del11 |
| Remarks |
Clinically affected; diagnosed with osteosarcoma at age 11 years; died at age 13 years of osteosarcoma; features of small stature; severe poikiloderma; sparse eyebrows and eyelashes; sister with RTS also died of metastatic osteosarcoma; product of a consanguineous mating; mother is AG18372 (LCL)/AG18373 (fibroblast); the donor subject is homozygous for a truncating mutation in the RECQL4 gene: an 11 bp deletion at nucleotide g.2746 (g.2746del11) in intron 8 which results in an intron that is too short to be efficiently spliced. The karyotype is 46,XY with 10% of the cells examined showing random chromosome loss/gain and 6% showing random chromosomal aberrations. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Kim H, Choi H, Im JS, Park SY, Shin G, Yoo JH, Kim G, Lee JK, Stable maintenance of the Mre11-Rad50-Nbs1 complex is sufficient to restore the DNA double-strand break response in cells lacking RecQL4 helicase activity The Journal of biological chemistry297:101148 2021 |
| PubMed ID: 34473993 |
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| Yokoyama H, Moreno-Andres D, Astrinidis SA, Hao Y, Weberruss M, Schellhaus AK, Lue H, Haramoto Y, Gruss OJ, Antonin W, Chromosome alignment maintenance requires the MAP RECQL4, mutated in the Rothmund-Thomson syndrome Life science alliance2:101148 2018 |
| PubMed ID: 30718377 |
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| Schurman SH, Hedayati M, Wang Z, Singh DK, Speina E, Zhang Y, Becker K, Macris M, Sung P, Wilson DM, Croteau DL, Bohr VA, Direct and indirect roles of RECQL4 in modulating base excision repair capacity Human molecular genetics18:3470-83 2009 |
| PubMed ID: 19567405 |
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| Petkovic M, Dietschy T, Freire R, Jiao R, Stagljar I, The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stability Journal of cell science118:4261-9 2005 |
| PubMed ID: 16141230 |
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| Wang LL, Gannavarapu A, Kozinetz CA, Levy ML, Lewis RA, Chintagumpala MM, Ruiz-Maldanado R, Contreras-Ruiz J, Cunniff C, Erickson RP, Lev D, Rogers M, Zackai EH, Plon SE, Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst95(9):669-74 2003 |
| PubMed ID: 12734318 |
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| Wang LL, Worley K, Gannavarapu A, Chintagumpala MM, Levy ML, Plon SE, Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. Am J Hum Genet71(1):165-7 2002 |
| PubMed ID: 12016592 |
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