GM06914

GM06914 Fibroblast from Skin, Unspecified

Description:

FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA

Affected:

Yes

Sex:

Male

Age:

12 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Biopsy Source

Unspecified

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Simian Virus 40

Sample Source

Fibroblast from Skin, Unspecified

Race

Black/African American

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; complementation group A; pancytopenia; lymphocytes show multiple chromosome breaks; untransformed fibroblasts show high frequency of spontaneous chromosome aberrations and extreme sensitivity to cell killing by mitomycin-C; T-antigen positive; SV40 transformed GM01309.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

Phenotypic Data

Remarks

Publications

Rieckher M, Gallrein C, Alquezar-Artieda N, Bourached-Silva N, Vaddavalli PL, Mares D, Backhaus M, Blindauer T, Greger K, Wiesner E, Pontel LB, Schumacher B, Distinct DNA repair mechanisms prevent formaldehyde toxicity during development, reproduction and aging Nucleic acids research: 2024

PubMed ID: 38894680

Fu S, Phan AT, Mao D, Wang X, Gao G, Goff SP, Zhu Y, HIV-1 exploits the Fanconi anemia pathway for viral DNA integration Cell reports39:110840 2021

PubMed ID: 35613597

Kim S, Hwang SK, Lee M, Kwak H, Son K, Yang J, Kim SH, Lee CH, Fanconi anemia complementation group A (FANCA) localizes to centrosomes and functions in the maintenance of centrosome integrity The international journal of biochemistry & cell biology39:110840 2013

PubMed ID: 23806870

Nakanishi K, Yang YG, Pierce AJ, Taniguchi T, Digweed M, D'Andrea AD, Wang ZQ, Jasin M, Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair. Proc Natl Acad Sci U S A102(4):1110-5 2005

PubMed ID: 15650050

Prince PR, Ogburn CE, Moser MJ, Emond MJ, Martin GM, Monnat RJ Jr, Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines. Hum Genet105:132-8 1999

PubMed ID: 10480367

Kupfer GM, Naf D, Suliman A, Pulsipher M, D'Andrea AD, The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex. Nat Genet17:487-90 1997

PubMed ID: 9398857

Ruppitsch W, Meisslitzer C, Weirich-Schwaiger H, Klocker H, Scheidereit C, Schweiger M, Hirsch-Kauffmann M, The role of oxygen metabolism for the pathological phenotype of Fanconi anemia. Hum Genet99:710-9 1997

PubMed ID: 9187662

Jakobs PM, Sahaayaruban P, Saito H, Reifsteck C, Olson S, Joenje H, Moses RE, Grompe M, Immortalization of four new Fanconi anemia fibroblast cell lines by an improved procedure. Somat Cell Mol Genet22(2):151-7 1996

PubMed ID: 8782494

Saito H, Grompe M, Neeley TL, Jakobs PM, Moses RE, Fanconi anemia cells have a normal gene structure for topoisomerase I. Hum Genet93:583-6 1994

PubMed ID: 8168839

Saito H, Moses RE, Immortalization of Werner syndrome and progeria fibroblasts Experimental cell research192:373-9 1991

PubMed ID: 1671011

Sun Y, Moses RE, Reactivation of psoralen-reacted plasmid DNA in Fanconi anemia, xeroderma pigmentosum, and normal human fibroblast cells. Somat Cell Mol Genet17:229-38 1991

PubMed ID: 2047939

Boyle JM, Hey Y, Guerts van Kessel A, Fox M, Assignment of ecto-5'-nucleotidase to human chromosome 6. Hum Genet81:88-92 1988

PubMed ID: 2848759

Wood CM, Timme TL, Hurt MM, Brinkley BR, Ledbetter DH, Moses RE, Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid. Exp Cell Res169:543-53 1987

PubMed ID: 3030788