NA24646
DNA from Fibroblast
Description:
USHER SYNDROME, TYPE IC; USH1C
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Skin
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Ashkenazi Jewish; Polish; Russian
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Country of Origin
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USA
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Family Member
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1
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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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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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| PDL at Freeze |
6.18 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
USH1C |
| Chromosomal Location |
11p15.1 |
| Allelic Variant 1 |
605242.0002; USHER SYNDROME, TYPE 1C |
| Identified Mutation |
238_239insC (R80fs) |
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| Gene |
USH1C |
| Chromosomal Location |
11p15.1 |
| Allelic Variant 2 |
605242.0002; USHER SYNDROME, TYPE 1C |
| Identified Mutation |
238_239insC (R80fs) |
| Remarks |
Clinically affected; symptom onset at birth; diagnosed at age 13 years; profound bilateral sensorineural hearing loss; balance issues; retinitis pigmentosa diagnosed in the second decade of life-at age 25 visual acuity was 20/20 with pigmentary retinopathy present in the periphery; electroretinography revealed subnormal rod b-wave, reduced a and b waves of the mixed cone-rod signal, and reduced cone responses, kinetic fields indicated a large central island separated from a far temporal island by and absolute mid-peripheral scotoma, subject was normal for a wide central region but had a decline in sensitivity at 26-30 degrees eccentricity; subject is homozygous for USH1C gene mutation: 238_239insC (R80fs); assistive devices include cochlear implant; subject takes vitamin A, lutein and fish oil supplements; affected sister is GM25303 and unaffected carrier parents are GM25302 (mother) and GM25304 (father). |
| Williams DS, Aleman TS, Lillo C, Lopes VS, Hughes LC, Stone EM, Jacobson SG., Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C. Invest Ophthalmol Vis Sci.50(8):3881-9 2009 |
| PubMed ID: 19324851 |
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