GM05995

GM05995 LCL from B-Lymphocyte

Description:

MAJOR AFFECTIVE DISORDER; OLD ORDER AMISH - 125480 OR 309200

Affected:

Yes

Sex:

Female

Age:

50 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Old Order Amish Major Affective Disorder
Heritable Diseases

Class

Disorders of the Nervous System

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

AMISH

Family Member

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; type II bipolar disorder (BPII); onset at age 30 with repeated episodes of MDD; sometimes psychotic; early evidence of hypomanic symptoms which became more noticeable (less under control) with age; hospital and physican treatment; six children, mother and two siblings have type I bipolar disorder (BPI); daughter of GM06013 and GM06015; spouse of GM05993; see GM05996 Fibroblast

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME

PCR Analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227..

GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME

PCR Analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227..

Phenotypic Data

Remarks

Publications

Miretti MM, Walsh EC, Ke X, Delgado M, Griffiths M, Hunt S, Morrison J, Whittaker P, Lander ES, Cardon LR, Bentley DR, Rioux JD, Beck S, Deloukas P, A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms. Am J Hum Genet76(4):634-46 2005

PubMed ID: 15747258

Shapero MH, Zhang J, Loraine A, Liu W, Di X, Liu G, Jones KW, MARA: a novel approach for highly multiplexed locus-specific SNP genotyping using high-density DNA oligonucleotide arrays Nucleic acids research32:e181 2004

PubMed ID: 15601992

Dong S, Wang E, Hsie L, Cao Y, Chen X, Gingeras TR, Flexible use of high-density oligonucleotide arrays for single-nucleotide polymorphism discovery and validation. Genome Res11(8):1418-24 2001

PubMed ID: 11483583

Vincent JB, Neves-Pereira ML, Paterson AD, Yamamoto E, Parikh SV, Macciardi F, Gurling HM, Potkin SG, Pato CN, Macedo A, Kovacs M, Davies M, Lieberman JA, Meltzer HY, Petronis A, Kennedy JL, An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus. Am J Hum Genet66(3):819-29 2000

PubMed ID: 10712198

Bowman ED, Bromeke B, Lensing W, Shields PG, Apolipoprotein E allelic frequency in elderly smokers. Am J Med Genet76(1):32-6 1998

PubMed ID: 9508061

Nussbaum RL, Orrison BM, Janne PA, Charnas L, Chinault AC, Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet99(2):145-50 1997

PubMed ID: 9048911

Potter NT, Meiotic instability associated with the CAGR1 trinucleotide repeat at 13q13. J Med Genet34(5):411-3 1997

PubMed ID: 9152839

Lisitsyn N, Lisitsyn N, Wigler M, Cloning the differences between two complex genomes. Science259:946-51 1993

PubMed ID: 8438152

Kelsoe JR, Ginns EI, Egeland JA, Gerhard DS, Goldstein AM, Bale SJ, Pauls DL, Long RT, Kidd KK, Conte G, et al, Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish [see comments] Nature342:238-43 1989

PubMed ID: 2682265

Nicholls RD, Knoll JH, Glatt K, Hersh JH, Brewster TD, Graham JM Jr, Wurster-Hill D, Wharton R, Latt SA, Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. Am J Med Genet33:66-77 1989

PubMed ID: 2568752

Egeland JA, Gerhard DS, Pauls DL, Sussex JN, Kidd KK, Allen CR, Hostetter AM, Housman DE, Bipolar affective disorders linked to DNA markers on chromosome 11. Nature325:783-7 1987

PubMed ID: 2881209

Gerhard DS, Kidd KK, Kidd JR, Egeland JA, Housman DE, Identification of a recent recombination event within the human beta- globin gene cluster. Proc Natl Acad Sci U S A81:7875-9 1984

PubMed ID: 6096866