GM24590
Fibroblast from Skin, Skin
Description:
USHER SYNDROME, TYPE IIC; USH2C
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
PIGI Consented Sample |
|
Biopsy Source
|
Skin
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Skin
|
|
Race
|
White
|
|
Ethnicity
|
Ashkenazic Jewish
|
|
Country of Origin
|
USA
|
|
Family Member
|
2
|
|
Family History
|
Y
|
|
Relation to Proband
|
father
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.19 |
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
GPR98 |
| Chromosomal Location |
5q14.3 |
| Allelic Variant 1 |
; |
| Identified Mutation |
c.8801C>A |
| Remarks |
Unaffected carrier of a novel nonsense mutation in exon 39 of the GPR98 (VLGR1) gene: c.8801C>A (S2934X); father of affected child - GM24589; mother of GM24589 is GM24591 . |
| Cumulative PDL at Freeze |
5.19 |
| Passage Frozen |
3 |
| Split Ratio |
1:5 |
| 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 |
- |
|