GM25517
LCL from B-Lymphocyte
Description:
CHOROIDEREMIA; CHM
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Ethnicity
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European Jewish
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Country of Origin
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CANADA
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Family History
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Y
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Relation to Proband
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proband
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Clinically affected; exam at age 23 noted extensive retinal pigment clumping, some spicular and areas of choroidal thinning; ERG (Electroretinography) test results : advancing tapetoretinal degeneration affecting the rods more than the cones; at age 35 years: slightly blurred vision at a distance and decreased side vision, exam at age 35 revealed: visual acuity: 20/40 OU with correction, visual fields show a midperipheral scotoma OU, macula: granular OU, vessels: minimally if at all attenuated OU, periphery: atrophy of the retinal pigment epithelium with clumped pigment OU, electroretinograms: reduced but detectable ERGs OU with computer averaging, smaller than those recorded previously, dark adaptation test was elevated 3.0 log units above normal OU, color testing on the Farnsworth D-15 Panel showed a scoptic axis; exam at age 53 years revealed subject is legally blind, distance acuity: 6/45 OD, 6/60- OS, near acuity: 1.6M Letters/40cm OU, visual fields: 6° x 6° OD, 12° x 14° OS; issued a 16D Schweizer LED magnifier for spot reading; issued MAX T.V. binocular distance glasses (2.1x) to improve vision when watching television; subject uses distance prescription glasses; family history: affected maternal grandfather and 2 male third cousins (family members not in repository). |
| NCBI GTR |
303100 CHOROIDEREMIA; CHM |
| OMIM |
303100 CHOROIDEREMIA; CHM |
| Omim Description |
CHOROIDEREMIA; CHM |
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GGTA, INCLUDED |
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RAB ESCORT PROTEIN 1, INCLUDED; REP1, INCLUDED |
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RAB GERANYLGERANYLTRANSFERASE, COMPONENT A, INCLUDED |
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RAB GG TRANSFERASE, INCLUDED |
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TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE; TCDCHOROIDAL SCLEROSIS, INCLUDED |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
- |
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