GM03901

GM03901 Fibroblast from Skin, Unspecified

Description:

FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1

Affected:

Yes

Sex:

Female

Age:

15 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Hereditary Cancers

Class

Heritable Cancer Syndromes and other Cancers

Biopsy Source

Unspecified

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Unspecified

Race

Black/African American

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

ISCN

46,XX,inv(9)(pter>p11::q13>p11::q13> qter)

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected with Gardner syndrome; fibroblast cells derived from skin biopsy; karyotype at p5 shows 11% of cells are polyploid - 46,XX,inv(9)(pter>p11:: q13>p11::q13>qter); balanced; subject had 2 intra-abdominal mesentery desmoids and recurrent low grade fibrosarcomas; DNA sequencing revealed that the donor subject has a C>T change at nucleotide 646 in exon 6 of the APC gene (646C>T) resulting in the conversion of an arginine at codon 216 to a stop codon [Arg216Ter (R216X)]; donor subject also has a polymorphism at exon 15: a C>T transition at nucleotide 2608 (2608C>T), which results in a proline 870 to serine substitution [Pro870Ser (P870S)]; similarly affected father (deceased - not in repository; fibromas, lipomas, metastatic colon cancer); same subject as GM03900 (tumor);