GM28856
Fibroblast from Skin, Skin
Description:
UBA5-RELATED DISORDER
|
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
|
Asian
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Country of Origin
|
USA
|
|
Family Member
|
2
|
|
Family History
|
N
|
|
Relation to Proband
|
mother
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
7.9 |
| Passage Frozen |
2 |
| |
| Remarks |
Unaffected carrier; Whole exome sequencing revealed that this donor is heterozygous for the p.M57V variant in the UBA5 gene passed down to the son; LCL sample is GM28954; affected son is GM28857 (fibro) and GM28942 (LCL). |
| Cumulative PDL at Freeze |
7.9 |
| Passage Frozen |
2 |
| 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 |
- |
|
|