Description:
RETINITIS PIGMENTOSA 1; RP1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Retinitis Pigmentosa Foundation Collection
Heritable Diseases |
| Class |
Ophthalmologic Disorders |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family Member
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57
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Relation to Proband
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paternal cousin
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
1 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Fibroblast culture; clinically affected; deceased father was affected; one affected brother; spouse is GM09010A Lymphoid; affected son is GM08971 Lymphoid |
| Petrovick MS, Boettcher T, Fremont-Smith P, Peragallo C, Ricke DO, Watkins J, Schwoebel E, Analysis of complex DNA mixtures using massively parallel sequencing of SNPs with low minor allele frequencies Forensic science international Genetics46:102234 2019 |
| PubMed ID: 32018060 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
| Passage Frozen |
1 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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