Repository NIGMS Human Genetic Cell Repository
Subcollection Retinitis Pigmentosa Foundation Collection
Heritable Diseases
Class Ophthalmologic Disorders
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Caucasian
Family Member 39
Relation to Proband paternal cousin
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks At risk; affected mother is GM10133; last examined in 1989; donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Remark At risk; affected mother is GM10133; last examined in 1989; donor subject does not carry the Arg677Ter (R677X) mutation in the RP1 gene.
Sullivan LS, Heckenlively JR, Bowne SJ, Zuo J, Hide WA, Gal A, Denton M, Inglehearn CF, Blanton SH, Daiger SP, Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa Nature genetics22:255-9 1999
PubMed ID: 10391212
 
Blanton SH, Heckenlively JR, Cottingham AW, Friedman J, Sadler LA, Wagner M, Friedman LH, Daiger SP, Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics11:857-69 1991
PubMed ID: 1783394
 
Heckenlively JR, Pearlman JT, Sparkes RS, Spence MA, Zedalis D, Field L, Sparkes M, Crist M, Tideman S, Possible assignment of a dominant retinitis pigmentosa gene to chromosome 1. Ophthalmic Res14:46-53 1982
PubMed ID: 6803203
 
Field LL, Heckenlively JR, Sparkes RS, Garcia CA, Farson C, Zedalis D, Sparkes MC, Crist M, Tideman S, Spence MA, Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa. J Med Genet19:266-70 1982
PubMed ID: 7120314
 
Spence MA, Sparkes RS, Heckenlively JR, Pearlman JT, Zedalis D, Sparkes M, Crist M, Tideman S, Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1. Am J Hum Genet29:397-404 1977
PubMed ID: 879170
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