Description:
WISKOTT-ALDRICH SYNDROME; WAS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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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|
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically affected; no family history of the disease |
| Laskowski TJ, Van Caeneghem Y, Pourebrahim R, Ma C, Ni Z, Garate Z, Crane AM, Li XS, Liao W, Gonzalez-Garay M, Segovia JC, Paschon DE, Rebar EJ, Holmes MC, Kaufman D, Vandekerckhove B, Davis BR, Gene Correction of iPSCs from a Wiskott-Aldrich Syndrome Patient Normalizes the Lymphoid Developmental and Functional Defects Stem cell reports: 2015 |
| PubMed ID: 27396937 |
| |
| Day, Human tumor cell strains defective in the repair of alkylation damage. Carcinogenesis1:21 (1980): 1980 |
| PubMed ID: 27396937 |
| |
| Paterson, Gamma-ray hypersensitivity and faulty DNA repair in cultured cells from humans exhibiting familial cancer proneness. Proc 6th Int Cong Rad Res, Tokyo(1979) p 484: 1979 |
| PubMed ID: 27396937 |
| 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 |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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