Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Heritable Cancer Syndromes and other Cancers
Cell Type Fibroblast
Transformant Untransformed
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 Tubulovillus adenoma; polyps; 46,XX; 27% of fibroblasts are polyploid; 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)]
Passage Frozen 11
 
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 Tubulovillus adenoma; polyps; 46,XX; 27% of fibroblasts are polyploid; 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
Passage Frozen 11
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA