GM11407
LCL from B-Lymphocyte
Description:
WEAVER SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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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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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Post-natal growth excess; camptodactyly; developmental delay; mild mental retardation; somewhat atypical facial appearance as an adult, more typical in early childhood; 46,XX in PBL |
| Deevy O, Li J, Monger C, Matrà F, Tuck E, Davies M, Badonyi M, Boyce M, Doyle EJ, Hokamp K, Nimmo D, Rodighiero S, Zhang Q, Davidovich C, Marsh JA, Pasini D, Conway E, Bracken AP, Dominant-negative effects of Weaver syndrome-associated EZH2 variants Genes & development39:1355-1376 2025 |
| PubMed ID: 40846643 |
| |
| Greenberg F, Wasiewski W, McCabe ER, Weaver syndrome: the changing phenotype in an adult. Am J Med Genet33:127-9 1989 |
| PubMed ID: 2750780 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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