NA02520
DNA from Fibroblast
Description:
BLOOM SYNDROME; BLM
RECQ PROTEIN-LIKE 3; RECQL3
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Hereditary Cancers
Chromosome Abnormalities |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XX
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
11 |
| |
| 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 |
RECQL3 |
| Chromosomal Location |
15q26.1 |
| Allelic Variant 1 |
fs:974+23-X; BLOOM SYNDROME |
| Identified Mutation |
2923delC |
| |
| Gene |
RECQL3 |
| Chromosomal Location |
15q26.1 |
| Allelic Variant 2 |
del exon 15 (fs:941+26-X); BLOOM SYNDROME |
| Identified Mutation |
DEL EX15 |
| Remarks |
Clinically affected; B.S. Registry #20; sun sensitivity; increased sister chromatid exchange in fibroblasts; donor subject is a compound heterozygote: one allele has a deletion at nucleotide 2923 of the RECQL3 gene [2923delC] resulting in a frameshift [fs:974+23-X] and a second allele has a deletion of exon 15 resulting in a frameshift [fs:941+26-X]. |
| German J, Sanz MM, Ciocci S, Ye TZ, Ellis NA, Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry Human mutation28:743-53 2007 |
| PubMed ID: 17407155 |
| |
| Trikka D, Fang Z, Renwick A, Jones SH, Chakraborty R, Kimmel M, Nelson DL, Complex SNP-based haplotypes in three human helicases: implications for cancer association studies. Genome Res12(4):627-39 2002 |
| PubMed ID: 11932247 |
| |
| Lu X, Lane DP, Differential induction of transcriptionally active p53 following UV or ionizing radiation: defects in chromosome instability syndromes? Cell75:765-78 1993 |
| PubMed ID: 8242748 |
| |
| Bubley GJ, Schnipper LE, Effects of Bloom's syndrome fibroblasts on genetic recombination and mutagenesis of herpes simplex virus type 1. Somat Cell Mol Genet13:111-7 1987 |
| PubMed ID: 3031825 |
| |
| Brothman AR, Cram LS, Bartholdi MF, Kraemer PM, Preneoplastic phenotype and chromosome changes of cultured human Bloom syndrome fibroblasts (strain GM 1492). Cancer Res46:791-7 1986 |
| PubMed ID: 3940643 |
| |
| Emerit I, Cerutti P, Clastogenic activity from Bloom syndrome fibroblast cultures. Proc Natl Acad Sci U S A78:1868-72 1981 |
| PubMed ID: 6940194 |
| |
| Hirschi M, Netrawali MS, Remsen JF, Cerutti PA, Formation of DNA single-strand breaks by near-ultraviolet and gamma-rays in normal and Bloom's syndrome skin fibroblasts. Cancer Res41:2003-7 1981 |
| PubMed ID: 7214368 |
| |
| Zbinden I, Cerutti P, Near-ultraviolet sensitivity of skin fibroblasts of patients with Bloom's syndrome. Biochem Biophys Res Commun98:579-87 1981 |
| PubMed ID: 7225114 |
| |
| Krepinsky AB, Rainbow AJ, Heddle JA, Studies on the ultraviolet light sensitivity of Bloom's syndrome fibroblasts. Mutat Res69:357-68 1980 |
| PubMed ID: 7360151 |
| |
| German J, Bloom D, Passarge E, Bloom's syndrome. VII. Progress report for 1978. Clin Genet15:361-7 1979 |
| PubMed ID: 436333 |
| |
| Selsky CA, Henson P, Weichselbaum RR, Little JB, Defective reactivation of ultraviolet light-irradiated herpesvirus by a Bloom's syndrome fibroblast strain. Cancer Res39:3392-6 1979 |
| PubMed ID: 225021 |
| |
| Selsky, Defective host-cell reactivation of UV-i rradiated herpes simplex virus by Bloom's syndrome skin fibroblasts. (from DNA Repair Mechanisms, Academic Press, Inc) "DNA Repair Mechanisms"1978, pp 555:3392-6 1978 |
| PubMed ID: 225021 |
|