NG17524
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 |
| Class |
Disorders of Uncertain Biochemical Etiology |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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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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Clinical summary/Case history
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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 |
9.35 |
| Passage Frozen |
1 |
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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.2626G>A |
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| Gene |
RECQL4 |
| Chromosomal Location |
8q24.3 |
| Allelic Variant 2 |
; ROTHMUND-THOMSON SYNDROME |
| Identified Mutation |
g.4644delAT; same as 603780.0003 |
| Remarks |
Clinically affected; culture from affected skin sample; skin rash at age 4 months; delayed tooth eruption; skin abnormalities (telangiectasia, atrophy, increased/decreased pigmentation on face and extensor surfaces of the forearms); photosensitivity; the donor subject is a compound heterozygote; both alleles carry truncating mutations in the RECQL4 gene: allele one carries a G>A substitution at g.2626 (g.2626G>A) in exon 8 resulting in alternative splicing; allele two carries a 2 bp deletion at g.4644delAT in exon 15 resulting in a frameshift; in addition, there are three mutations which result in amino acid changes: a homozygous substitution at g.1551G>T in exon 5 resulting in an amino acid change GLU267ASP (E267D), a heterozygous substitution at g.4470G>A in exon 14 resulting in an amino acid change GLU>ASP (E>D), and a homozygous substitution at g.5321G>A in exon 17 resulting in an amino acid change ARG1005GLN (R1005Q); there was one silent homozygous mutation at nucleotide g.1488C>T in exon 5 resulting in no change S246S. |
| 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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| Park SY, Kim H, Im JS, Lee JK, ATM activation is impaired in human cells defective in RecQL4 helicase activity Biochemical and Biophysical Research Communications
297:101148 2018 |
| PubMed ID: 30594395 |
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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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