Description:
DENYS-DRASH SYNDROME; DDS
WT1 TRANSCRIPTION FACTOR; WT1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Heritable Cancer Syndromes and other Cancers |
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Biopsy Source
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Turnica albuginea
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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 |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
WT1 |
| Chromosomal Location |
11p13 |
| Allelic Variant 1 |
; DENYS-DRASH SYNDROME; DDS |
| Identified Mutation |
c.1400G>T (p.Arg467Leu) |
| Remarks |
Bilateral gonadal neoplasia; glomerulosclerosis; acute renal failure at age 5 mo; 46,XY in testicular tumor tissue; culture was established from turnica albuginea tissue; c.1400G>T (p.Arg467Leu) heterozygous mutation (isoform D, rs121907903C>A) in WT1 gene. |
| Doeser MC, Krygin J, Röpke A, Han D, Wedlich-Söldner R, Schöler HR, Pavenstädt H, Kim KP, Generation of a human iPSC line (MPIi008-A) from a patient with Denys-Drash syndrome Stem cell research62:102826 2021 |
| PubMed ID: 35667217 |
| Passage Frozen |
5 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
MEM (Eagle) Alpha Modification with nucleosides with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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