GM28856
Fibroblast from Skin, Skin
Description:
UBA5-RELATED DISORDER
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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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Asian
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Ethnicity
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Not Hispanic/Latino
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Country of Origin
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USA
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Family Member
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2
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Family History
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N
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Relation to Proband
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mother
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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 |
7.9 |
| Passage Frozen |
2 |
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| 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 |
- |
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