Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Ophthalmologic Disorders
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 ACADIAN
Family Member 6
Relation to Proband maternal grandmother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Acadian; clinically unaffected; 3 affected grandchildren
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.
Remark Acadian; clinically unaffected; 3 affected grandchildren
Pelias MZ, Lemoine DR, Kossar AL, Ward LJ, Wilson AF, Elston RC, Linkage studies of Usher syndrome: analysis of an Acadian kindred in Louisiana. Cytogenet Cell Genet47:111-2 1988
PubMed ID: 3162715
Kloepfer HW, Laguaite JK, The hereditary syndrome of congenital deafness and retinitis pigmentosa. (Usher's syndrome). Laryngoscope76:850-62 1966
PubMed ID: 5937908
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