Repository NIGMS Human Genetic Cell Repository
Subcollection Apparently Healthy Collection
Alternate IDs GM17213 [APPARENTLY HEALTHY NON-FETAL TISSUE]
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
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks HLA type A1,A9,B18(B13); formerly GM01073; 46,XX, 1 chromosome #16 is qh+; donor subject is heterozygous for a sequence variation (polymorphism) in exon 19 of the CFTR gene: the guanine-to-thymine substitution at nucleotide 3617 (3617G>T) results in a replacement of arginine at codon 1162 (CGA) by leucine (CTA) [Arg1162Leu (R1162L)].
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis
 
Gene CFTR
Chromosomal Location 7q31.2
Allelic Variant 1 R1162L; NORMAL
Identified Mutation ARG1162LEU
Remark HLA type A1,A9,B18(B13); formerly GM01073; 46,XX, 1 chromosome #16 is qh+; donor subject is heterozygous for a sequence variation (polymorphism) in exon 19 of the CFTR gene: the guanine-to-thymine substitution at nucleotide 3617 (3617G>T) results in a replacement of arginine at codon 1162 (CGA) by leucine (CTA) [Arg1162Leu (R1162L)].
Atwal GS, Bond GL, Metsuyanim S, Papa M, Friedman E, Distelman-Menachem T, Ben Asher E, Lancet D, Ross DA, Sninsky J, White TJ, Levine AJ, Yarden R, Haplotype structure and selection of the MDM2 oncogene in humans Proceedings of the National Academy of Sciences of the United States of America104:4524-9 2007
PubMed ID: 17360557
 
Gong Y, Beitelshees AL, Wessel J, Langaee TY, Schork NJ, Johnson JA, Single nucleotide polymorphism discovery and haplotype analysis of Ca2+-dependent K+ channel beta-1 subunit Pharmacogenetics and genomics17:267-75 2007
PubMed ID: 17496725
 
Harris SL, Gil G, Robins H, Hu W, Hirshfield K, Bond E, Bond G, Levine AJ, Detection of functional single-nucleotide polymorphisms that affect apoptosis Proceedings of the National Academy of Sciences of the United States of America102:16297-302 2005
PubMed ID: 16260726
 
Sotamaa K, Liyanarachchi S, Mecklin JP, Järvinen H, Aaltonen LA, Peltomäki P, de la Chapelle A, p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome Clinical cancer research : an official journal of the American Association for Cancer Research11:6840-4 2005
PubMed ID: 16203772
No data is available
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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