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 2
Relation to Proband brother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically unaffected; Acadian; 3 affected sibs; brother of GM10354 and GM10506; son of GM10357B and GM10358; donor subject does not carry a USH1C gene mutation
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 positive result with a primer for Yq11, DYS227.
 
Remark Clinically unaffected; Acadian; 3 affected sibs; brother of GM10354 and GM10506; son of GM10357B and GM10358; donor subject does not carry a USH1C gene mutation
Lentz J, Savas S, Ng SS, Athas G, Deininger P, Keats B, The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion Human genetics116:225-7 2004
PubMed ID: 15578223
 
Smith RJ, Lee EC, Kimberling WJ, Daiger SP, Pelias MZ, Keats BJ, Jay M, Bird A, Reardon W, Guest M, et al, Localization of two genes for Usher syndrome type I to chromosome 11. Genomics14:995-1002 1992
PubMed ID: 1478678
 
Smith RJ, Pelias MZ, Daiger SP, Keats B, Kimberling W, Hejtmancik JF, Clinical variability and genetic heterogeneity within the Acadian Usher population. Am J Med Genet43:964-9 1992
PubMed ID: 1415347
 
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 1:4
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