Description:
WILMS TUMOR 1; WT1
CHROMOSOME DELETION
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Chromosome Abnormalities dbGaP |
Class |
Heritable Cancer Syndromes and other Cancers |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
46,XY,del(11)(p14p13).arr 11p14.1p13(28228292-34918867)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
3 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Glucose-6-Phosphate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
|
Cytogenetics |
Chromosome 11: DELETION Aneuploid Segment (-)11p14>11p13 |
Remarks |
Micropenis; cryptorchidism; bilateral aniridia; optic nerve atrophy; genital skin fibroblast culture; 46,XY,del(11) (pter>p14.1::p13>qter); see GM07736 Lymphoid |
Parivesh A, Délot E, Reyes A, Ryan J, Bhattacharya S, Harley V, Vilain E, Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development Biology of sex differences15:24 2023 |
PubMed ID: 38520033 |
|
Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
PubMed ID: 23665875 |
Passage Frozen |
3 |
Split Ratio |
1:5 |
Temperature |
37 C |
Percent CO2 |
5% |
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 |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
|
|