GM11518
LCL from B-Lymphocyte
Description:
ANGELMAN SYNDROME; AS
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Other Disorders of Known Biochemistry |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Family Member
|
3
|
Relation to Proband
|
father
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
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 |
|
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 |
Split Ratio |
1:3 |
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 |
- |
|
|