GM24591
Fibroblast from Skin, Skin
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 |
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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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Fibroblast from Skin, Skin
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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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3
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Family History
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Y
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Relation to Proband
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mother
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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 |
5.93 |
| 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.14973-2A>G; Novel splice site mutation. |
| Remarks |
Unaffected carrier of a novel splice site mutation in intron 73 of the GPR98 (VLGR1 ) gene, c.14973-2A>G; mother of affected child: GM24589; father of GM24589 is GM24590. |
| Cumulative PDL at Freeze |
5.93 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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 |
| Supplement |
- |
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