GM23843

GM23843 LCL from B-Lymphocyte

Description:

PERSONAL GENOME PROJECT
COAGULATION FACTOR II; F2

Affected:

Unknown

Sex:

Male

Age:

54 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Apparently Healthy Collection
PIGI Consented Sample
Whole-Genome Sequence

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Country of Origin

USA

Family History

Relation to Proband

proband

ISCN

46,XY.arr(1-22)x2,(XY)x1

Species

Homo sapiens

Common Name

Human

Remarks

Participant (huA90CE6) in the Personal Genome Project: Nearsighted; farsighted; scintillating scotoma; ocular migraines; sinus bradycardia; incomplete right bundle branch block; simple hepatic cysts; liver hemangioma; single sessile 5 mm hyperplastic polyp in sigmoid colon removed; herpes labialis; anxiety; depression; tinnitus; age related memory loss; onychomycosis; gallstone; seasonal pollen allergies; former smoker (12 pk years); subject is heterozygous for prothrombin G20210A mutation; family history: brother diagnosed with type II diabetes; mother, brother and sister have hypothyroidism, and an uncle died of myocardial infarction in his 40’s. Whole genome sequence data is available on the PGP website.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

Chromosomal Location

11p11-q12

Allelic Variant 1

176930.0009; HYPERPROTHROMBINEMIA WITH RISK OF THROMBOSIS

Identified Mutation

20210G>A; Poort et al. (1996) described a common genetic variation in the 3-prime untranslated region of the prothrombin gene that is associated with elevated plasma prothrombin levels and an increased risk of venous thrombosis: a G-to-A transition at position 20210 Degen and Davie, 1987. They found this single base substitution in 18% of probands of thrombophilic families, 6% of unselected consecutive patients with deep-vein thrombosis, and 2% of healthy controls. Rosendaal et al. (1997) found that the mutation was associated with a 4-fold increased risk of myocardial infarction in women, while among men the risk was increased 1.5-fold Doggen et al., 1998. Rosendaal et al. (1998) presented data from 11 centers and 9 countries, representing a total of 5,527 tested individuals. Among these, 111 heterozygous carriers of the 20210A mutation were found. The overall prevalence estimate was 2.0%. In southern Europe, the prevalence was 3.0%, nearly twice as high as the prevalence in northern Europe (1.7%). The prothrombin variant appeared to be very rare in individuals of Asian and African descent.

Phenotypic Data

Remarks

Publications

Smullen M, Olson MN, Reichert JM, Dawes P, Murray LF, Baer CE, Wang Q, Readhead B, Church GM, Lim ET, Chan Y, Reliable multiplex generation of pooled induced pluripotent stem cells Cell reports methods3:100570 2022

PubMed ID: 37751688

Mao Q, Ciotlos S, Zhang RY, Ball MP, Chin R, Carnevali P, Barua N, Nguyen S, Agarwal MR, Clegg T, Connelly A, Vandewege W, Zaranek AW, Estep PW, Church GM, Drmanac R, Peters BA., The whole genome sequences and experimentally phased haplotypes of over 100 personal genomes. Gigascience.5(1):42 2016

PubMed ID: 27724973

Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013

PubMed ID: 23665875

Church GM, The personal genome project. Mol Syst Biol.1, 2005.0030:1143-9 2005

PubMed ID: 16729065