GM25504
Fibroblast from Skin, Skin
Description:
MICROCEPHALY WITH CHORIORETINOPATHY
|
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
|
Not Hispanic/Latino
|
|
Ethnicity
|
Mennonite
|
|
Country of Origin
|
USA
|
|
Family Member
|
2
|
|
Family History
|
Y
|
|
Relation to Proband
|
father
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
8.44 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
TUBGCP6 |
| Chromosomal Location |
22q13.33 |
| Allelic Variant 1 |
p.Ter1820Gly; MICROCEPHALY WITH CHORIORETINOPATHY |
| Identified Mutation |
c.5458T>G |
| Remarks |
Unaffected carrier; heterozyogous mutation TUBGCP6 c.5458T>G; father of affected daughter (GM25502, fibroblast) and affected son (GM25503, fibroblast). |
| Cumulative PDL at Freeze |
8.44 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
Gelatin |
| Supplement |
- |
|
|