GM21868
LCL from B-Lymphocyte
Description:
WISKOTT-ALDRICH SYNDROME; WAS
WAS GENE; WAS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| 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)] |
| Pille M, Avila JM, Park SH, Le CQ, Xue H, Haerynck F, Saxena L, Lee C, Shpall EJ, Bao G, Vandekerckhove B, Davis BR, Gene editing-based targeted integration for correction of Wiskott-Aldrich syndrome Molecular therapy Methods & clinical development32:101208 2024 |
| PubMed ID: 38414825 |
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| 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 Oncogene32:101208 2021 |
| PubMed ID: 33139832 |
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| 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 immunology32:101208 2019 |
| PubMed ID: 31604087 |
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| 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 |
- |
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