Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Heritable Cancer Syndromes and other Cancers
Alternate IDs GM17078 [FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1]
Quantity 50 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Caucasian
Ethnicity PUERTO RICAN
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Father was also affected; myriad of adenomatous colorectal polyps; rectal adenocarcinoma; see GM11477 Fibroblast; donor subject has one allele which has a 1 bp deletion at nucleotide 3149 in exon 15 of the APC gene (3149delC) resulting in the truncation of the APC gene product
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene APC
Chromosomal Location 5q21-q22
Allelic Variant 1 termination after 5 AA; ADENOMATOUS POLYPOSIS COLI
Identified Mutation 3149delC
Remark Father was also affected; myriad of adenomatous colorectal polyps; rectal adenocarcinoma; see GM11477 Fibroblast; donor subject has one allele which has a 1 bp deletion at nucleotide 3149 in exon 15 of the APC gene (3149delC) resulting in the truncation of the APC gene product
Aquino A, Garcia C, Dosluoglu H, Frelick R, Johnstone EA, Lebowitz HA, Garren LR, Witkin GB, Borgaonkar DS, Finocchiaro M, et al, Familial adenomatous polyposis in Delaware. Del Med J65(10):627-44 1993
PubMed ID: 8253253
No data is available
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium