Description:
TAF11 DEFICIENCY
TAF11 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 28-KD; TAF11
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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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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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Old order mennonite
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Country of Origin
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USA
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Family Member
|
3
|
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Family History
|
N
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Relation to Proband
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father
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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 |
4.95 |
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
TAF11 |
| Chromosomal Location |
6p21.31 |
| Allelic Variant 1 |
; |
| Identified Mutation |
c.464C>T [p.Ser155Phe] |
| Remarks |
Clinically unaffected carrier; whole exome sequencing and sanger confirmed heterozygous c.464C>T (p.Ser155Phe) mutation in TAF11 gene; affected children (GM27367, GM27370, GM27371, fibros); family 3432. |
| Cumulative PDL at Freeze |
4.95 |
| Passage Frozen |
3 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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