Description:
ANGELMAN SYNDROME; AS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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Race
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White
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Family Member
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3
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Relation to Proband
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father
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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 |
Clinically unaffected parent of GM11516; 46,XY in PBL |
| Yuan B, Zhou X, Suzuki K, Ramos-Mandujano G, Wang M, Tehseen M, Cortés-Medina LV, Moresco JJ, Dunn S, Hernandez-Benitez R, Hishida T, Kim NY, Andijani MM, Bi C, Ku M, Takahashi Y, Xu J, Qiu J, Huang L, Benner C, Aizawa E, Qu J, Liu GH, Li Z, Yi F, Ghosheh Y, Shao C, Shokhirev M, Comoli P, Frassoni F, Yates JR, Fu XD, Esteban CR, Hamdan S, Izpisua Belmonte JC, Li M, Wiskott-Aldrich syndrome protein forms nuclear condensates and regulates alternative splicing Nature communications13:3646 2021 |
| PubMed ID: 35752626 |
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| 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 |
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