Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Heritable Cancer Syndromes and other Cancers
Quantity 0.050mg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Caucasian
Ethnicity ENGLISH
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XX
Species Homo sapiens
Common Name Human
Remarks Many affected members in pedigree; 46, XX; 10% of cells show random chromosome loss; 18% of cells show chromosome breaks; centromeres are fragile on chromosomes #1, #9, and #16; donor subject has a C>T change at nucleotide 643 in exon 5 of the APC gene (643C>T) resulting in the conversion of a glutamine at codon 215 to a stop codon [Gln215Ter (Q215X)]
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
Gene APC
Chromosomal Location 5q21-q22
Allelic Variant 1 611731.0022; TURCOT SYNDROME WITH MEDULLOBLASTOMA
Identified Mutation GLN215TER; Hamilton et al. [New Eng. J. Med. 332: 839-847 (1995)] studied 14 families with Turcot syndrome and the family originally described by Turcot et al. [Dis. Colon Rectum 2: 465-468, (1959)]. Genetic abnormalities were identified in 13 of the 14 families. Germline APC mutations were detected in 10. The predominant brain tumor in these 10 families was medulloblastoma (11 of 14 patients, or 79%). In a formal risk analysis for brain tumors in familial adenomatous polyposis, Hamilton et al. (1995) found a relative risk of cerebellar medulloblastoma 92 times that found in the general population. In the other 4 of the 14 families, the type of brain tumor was glioblastoma. The glioblastomas and colorectal tumors in 3 of these 4 families and in the original family studied by Turcot et al. (1959) had replication errors characteristic of hereditary nonpolyposis colorectal cancer. In their family 2, Hamilton et al. (1995) found a truncating point mutation in APC at codon 215; a CAG-to-TAG nonsense mutation resulted in gln215-to-ter.
Remark Many affected members in pedigree; 46, XX; 10% of cells show random chromosome loss; 18% of cells show chromosome breaks; centromeres are fragile on chromosomes #1, #9, and #16; donor subject has a C>T change at nucleotide 643 in exon 5 of the APC gene (643C>T) resulting in the conversion of a glutamine at codon 215 to a stop codon [Gln215Ter (Q215X)]
No data is available
No data is available
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 20% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium