GM21868
LCL from B-Lymphocyte
Description:
WISKOTT-ALDRICH SYNDROME; WAS
WAS GENE; WAS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
WAS |
| Chromosomal Location |
Xp11.23-p11.22 |
| Allelic Variant 1 |
V75M; WISKOTT-ALDRICH SYNDROME |
| Identified Mutation |
VAL75MET |
| Remarks |
Clinically affected; donor subject has a G>A transition at nucleotide 257 in exon 2 of the WAS gene (257G>A) resulting in the substitution of methionine for valine at codon 75 [Val75Met (V75M)] |
| Han SS, Wen KK, Vyas YM, Deficiency of Wiskott-Aldrich syndrome protein has opposing effect on the pro-oncogenic pathway activation in nonmalignant versus malignant lymphocytes Oncogene: 2020 |
| PubMed ID: 33139832 |
| |
| Wen KK, Han SS, Vyas YM, Wiskott-Aldrich syndrome protein senses irradiation-induced DNA damage to coordinate the cell-protective Golgi dispersal response in human T and B lymphocytes The Journal of allergy and clinical immunology: 2019 |
| PubMed ID: 31604087 |
| |
| Lemahieu V, Gastier JM, Francke U, Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes Human mutation14:54-66 1999 |
| PubMed ID: 10447259 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|