GM02520

GM02520 Fibroblast

Description:

BLOOM SYNDROME; BLM
RECQ PROTEIN-LIKE 3; RECQL3

Affected:

Yes

Sex:

Female

Age:

10 YR (At Sampling)

Overview

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

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Relation to Proband

proband

Confirmation

Clinical summary/Case history

ISCN

46,XX

Species

Homo sapiens

Common Name

Human

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].

Characterizations

Passage Frozen

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

Phenotypic Data

Remarks

Publications

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