GM03657

GM03657 LCL from B-Lymphocyte

Description:

APPARENTLY HEALTHY INDIVIDUAL

Affected:

No

Sex:

Male

Age:

68 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Apparently Healthy Collection

Alternate IDs

GM17222 [APPARENTLY HEALTHY INDIVIDUAL]

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Family Member

Relation to Proband

proband

Confirmation

Karyotypic analysis and Case history

Species

Homo sapiens

Common Name

Human

Remarks

46,XY; 2% of cells show random chromosome loss; see GM03658 Fibroblast

Characterizations

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

Phenotypic Data

Remarks

46,XY; 2% of cells show random chromosome loss; see GM03658 Fibroblast

Publications

Pennarun G, Granotier C, Hoffschir F, Mandine E, Biard D, Gauthier LR, Boussin FD, Role of ATM in the telomere response to the G-quadruplex ligand 360A Nucleic acids research36:1741-54 2008

PubMed ID: 18263609

Atwal GS, Bond GL, Metsuyanim S, Papa M, Friedman E, Distelman-Menachem T, Ben Asher E, Lancet D, Ross DA, Sninsky J, White TJ, Levine AJ, Yarden R, Haplotype structure and selection of the MDM2 oncogene in humans Proceedings of the National Academy of Sciences of the United States of America104:4524-9 2007

PubMed ID: 17360557

Innes CL, Heinloth AN, Flores KG, Sieber SO, Deming PB, Bushel PR, Kaufmann WK, Paules RS, ATM requirement in gene expression responses to ionizing radiation in human lymphoblasts and fibroblasts. Mol Cancer Res4(3):197-207 2006

PubMed ID: 16547157

Rodig H, Roewer L, Gross A, Richter T, de Knijff P, Kayser M, Brabetz W, Evaluation of haplotype discrimination capacity of 35 Y-chromosomal short tandem repeat loci Forensic science international174:182-8 2006

PubMed ID: 17543484

Harris SL, Gil G, Robins H, Hu W, Hirshfield K, Bond E, Bond G, Levine AJ, Detection of functional single-nucleotide polymorphisms that affect apoptosis Proceedings of the National Academy of Sciences of the United States of America102:16297-302 2005

PubMed ID: 16260726

Sotamaa K, Liyanarachchi S, Mecklin JP, Järvinen H, Aaltonen LA, Peltomäki P, de la Chapelle A, p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome Clinical cancer research : an official journal of the American Association for Cancer Research11:6840-4 2005

PubMed ID: 16203772

Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, MacKenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, Elyas B, Lilley M, Bamforth S, McDermid HE, Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet76(5):865-76 2005

PubMed ID: 15800846

Pastinen T, Sladek R, Gurd S, Sammak A, Ge B, Lepage P, Lavergne K, Villeneuve A, Gaudin T, Brandstrom H, Beck A, Verner A, Kingsley J, Harmsen E, Labuda D, Morgan K, Vohl MC, Naumova AK, Sinnett D, Hudson TJ, A survey of genetic and epigenetic variation affecting human gene expression. Physiol Genomics16(2):184-93 2004

PubMed ID: 14583597

Pichierri P, Rosselli F, Franchitto A, Werner's syndrome protein is phosphorylated in an ATR/ATM-dependent manner following replication arrest and DNA damage induced during the S phase of the cell cycle Oncogene22:1491-500 2003

PubMed ID: 12629512

Franchitto A, Pichierri P, Bloom's syndrome protein is required for correct relocalization of RAD50/MRE11/NBS1 complex after replication fork arrest. J Cell Biol157(1):19-30 2002

PubMed ID: 11916980

Deming PB, Cistulli CA, Zhao H, Graves PR, Piwnica-Worms H, Paules RS, Downes CS, Kaufmann WK, The human decatenation checkpoint. Proc Natl Acad Sci U S A98(21):12044-9 2001

PubMed ID: 11593014

Wong AC, Ning Y, Flint J, Clark K, Dumanski JP, Ledbetter DH, McDermid HE, Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation. Am J Hum Genet60:113-20 1997

PubMed ID: 8981954

Fregeau CJ, Aubin RA, Elliott JC, Gill SS, Fourney RM, Characterization of human lymphoid cell lines GM9947 and GM9948 as intra- and interlaboratory reference standards for DNA typing. Genomics28:184-97 1995

PubMed ID: 8530025

Mears AJ, el-Shanti H, Murray JC, McDermid HE, Patil SR, Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. Am J Hum Genet57:667-73 1995

PubMed ID: 7668296

Nesslinger NJ, Gorski JL, Kurczynski TW, Shapira SK, Siegel-Bartelt J, Dumanski JP, Cullen RF Jr, French BN, McDermid HE, Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3. Am J Hum Genet54:464-72 1994

PubMed ID: 7906921

Rosselli F, Sanceau J, Gluckman E, Wietzerbin J, Moustacchi E, Abnormal lymphokine production: a novel feature of the genetic disease Fanconi anemia. II. In vitro and in vivo spontaneous overproduction of tumor necrosis factor alpha. Blood83:1216-25 1994

PubMed ID: 8118026

McDermid HE, Budarf ML, Emanuel BS, Long-range restriction map of human chromosome 22q11-22q12 between the lambda immunoglobulin locus and the Ewing sarcoma breakpoint. Genomics18:308-18 1993

PubMed ID: 7507075