GM00369

GM00369 Fibroblast from Skin, Arm

Description:

FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA

Affected:

Yes

Sex:

Male

Age:

6 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Chromosome Abnormalities

Class

Syndromes with Increased Chromosome Breakage

Biopsy Source

Arm

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Arm

Race

White

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; complementation group A; multiple chromosome breaks and gaps; clinically affected; also referred to as subject C12 in publication by Elmore and Swift (1975, PMID 1214005).

Characterizations

PDL at Freeze

5.33

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

Phenotypic Data

Remarks

Clinically affected; complementation group A; multiple chromosome breaks and gaps; clinically affected; also referred to as subject C12 in publication by Elmore and Swift (1975, PMID 1214005).

Publications

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

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

Goldstein S, Jones RA, Hardin JW, Braunstein GD, Shmookler Reis RJ, Expression of alpha- and beta-human chorionic gonadotropin subunits in cultured human cells. In Vitro Cell Dev Biol26:857-64 1990

PubMed ID: 1699921

Berger NA, Berger SJ, Catino DM, Abnormal NAD+ levels in cells from patients with Fanconi's anaemia. Nature299:271-3 1982

PubMed ID: 6810184

Auerbach AD, Wolman SR, Chaganti RS, A spontaneous clone of Fanconi anemia fibroblasts with chromosome abnormalities and increased growth potential. Cytogenet Cell Genet28:265-70 1980

PubMed ID: 7460627

Lubiniecki AS, Blattner WA, Dosik H, Sun C, Fraumeni JF Jr, SV40 T-antigen expression in skin fibroblasts from clinically normal individuals and from ten cases of Fanconi anemia. Am J Hematol2:33-40 1977

PubMed ID: 194477

Elmore E, Swift M, Growth of cultured cells from patients with Fanconi anemia Journal of cellular physiology87:229-33 1975

PubMed ID: 1214005