GM11406
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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Ethnicity
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HISPANIC
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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 |
Height, weight, & head circumference >90th %ile; developmental delay; retarded speech; bilat lacrimal duct obstruction; broad forehead; hypertelorism; micrognathia; bilat genu varum; lrg hands & feet; mild hypotonia; 46,XY 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 |
| 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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