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GM08956 LCL from B-Lymphocyte

Description:

RETINITIS PIGMENTOSA 1; RP1

Affected:

Yes

Sex:

Female

Age:

52 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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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
Sample Source LCL from B-Lymphocyte
Race White
Family Member 41
Relation to Proband paternal cousin
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; deceased father was affected; mother is GM09771; spouse is GM08975; affected sibs are GM08967, 08948A, 08970, & 08978; affected children are GM08988 & 08969; donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene [2029C>T] resulting in a substitution of a stop codon for arginine at codon 677 [Arg677Ter (R677X)].

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene RP1
Chromosomal Location 8q11-q13
Allelic Variant 1 603937.0001; RETINITIS PIGMENTOSA 1
Identified Mutation ARG677TER; In a patient with autosomal dominant retinitis pigmentosa (180100), Pierce et al. (Nat Genet 22:248-254, 1999) found a C-to-T transition in exon 4 of the RP1 gene, resulting in a nonsense mutation, CGA (arg) to TGA (ter). This mutant allele, if expressed, would encode a protein of 676 amino acids, 1,480 less than the predicted wildtype RP1 protein. The mutation was first identified in the family in which Blanton et al. (Genomics 11:857-869, 1991) identified linkage to chromosome 8.

Phenotypic Data

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Remarks Clinically affected; deceased father was affected; mother is GM09771; spouse is GM08975; affected sibs are GM08967, 08948A, 08970, & 08978; affected children are GM08988 & 08969; donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene [2029C>T] resulting in a substitution of a stop codon for arginine at codon 677 [Arg677Ter (R677X)].

Publications

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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
 
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
 
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
 
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
 
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

External Links

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dbSNP dbSNP ID: 16544
NCBI GTR 180100 RETINITIS PIGMENTOSA 1; RP1
OMIM 180100 RETINITIS PIGMENTOSA 1; RP1
Omim Description RETINITIS PIGMENTOSA 1; RP1

Culture Protocols

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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
Supplement -
Pricing
Commercial/For-profit:
$373.00USD
Academic/Non-profit/Government:
$216.00USD
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How to Order
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