GM11404
LCL from B-Lymphocyte
Description:
ANGELMAN SYNDROME; AS
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Other Disorders of Known Biochemistry |
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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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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis and In situ hybridization
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ISCN
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46,XY[24].arr[hg19]15q11.2q13.1(23,641,501-28,530,359)x1
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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 and by Chromosome Analysis |
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| Cytogenetics |
Chromosome 15: DELETION Aneuploid Segment (-)15q11>15q13 |
| Remarks |
Typical facies, seizures, difficulty walking, jerky movements, non-verbal, and some frontal atrophy with mild ventricular enlargement; 46,XY,del(15)(pter>q11::q13> qter); del(15) confirmed by FISH with AS and PWS A and B critical region probes |
| 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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| Fulmer-Smentek SB, Francke U, Association of acetylated histones with paternally expressed genes in the Prader--Willi deletion region. Hum Mol Genet10(6):645-52 2001 |
| PubMed ID: 11230184 |
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| de Los Santos T , Schweizer J, Rees CA, Francke U, Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the prader-willi deletion region, which Is highly expressed in brain. Am J Hum Genet67(5):1067-82 2000 |
| PubMed ID: 11007541 |
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| Kubota T, Aradhya S, Macha M, Smith AC, Surh LC, Satish J, Verp MS, Nee HL, Johnson A, Christan SL, Ledbetter DH, Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis. J Med Genet33(12):1011-4 1996 |
| PubMed ID: 9004133 |
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| Wevrick R, Kerns JA, Francke U, Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Hum Mol Genet3:1877-82 1994 |
| PubMed ID: 7849716 |
| Split Ratio |
1:4 |
| 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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