Description:
DENYS-DRASH SYNDROME; DDS
WT1 TRANSCRIPTION FACTOR; WT1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Heritable Cancer Syndromes and other Cancers |
|
Biopsy Source
|
Turnica albuginea
|
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| 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 |
- |
|