NA24589
DNA from Fibroblast
Description:
USHER SYNDROME, TYPE IIC; USH2C
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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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Ashkenazic Jewish
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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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Confirmation
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Molecular characterization before cell line submission to CCR
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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 |
6.16 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
GPR98 |
| Chromosomal Location |
5q14.3 |
| Allelic Variant 1 |
; |
| Identified Mutation |
c.8801C>A |
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| Gene |
GPR98 |
| Chromosomal Location |
5q14.3 |
| Allelic Variant 2 |
; |
| Identified Mutation |
c.14973-2A>G; Novel splice site mutation. |
| Remarks |
Clinically affected; symptom onset at age 3; diagnosed at age 21; retinitis pigmentosa; hearing loss; subject has 2 mutations in the GPR98 (VLGR1) gene: c.8801C>A (S2934X), novel nonsense mutation in exon 39 and c.14973-2A>G, a novel splice site mutation in intron 73; assistive devices/treatments: hearing aid, speech language therapy; father is GM24590, mother is GM24591. |
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