GM23336
LCL from B-Lymphocyte
Description:
PRADER-WILLI SYNDROME; PWS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
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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/Latino
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Ethnicity
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RUSSIAN/N. EUROPEAN MIX/NICARAGUAN
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis before cell line submission to CCR
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ISCN
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46,XX.arr 15q11.2(18655530-20089383)x4,15q11.2q13.1(20224750-26500067)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 LINE assay |
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| Remarks |
Clinically affected, sleep apnea; skin picking behavior; mild temper, high pain threshold; flat occiput, mild bitemporal narrowing, almond-shaped upslanting eyes, flat philtrum and a thin upper lip; normal teeth except for flattening secondary to bruxism; sticky saliva; cup-shaped ears; low anterior and posterior hairline; underdeveloped labia majora, tanner stage III; short fourth and fifth metacarpals, left clinodactyly; significant tapering of lower extremities; mild hypotonia; obese; food seeking; compulsive ordering and arranging behaviors; high pain threshold, daytime sleepiness; skin picking; deletion of 15q11; tonsils and adenoids removed; on albuterol inhaler and Advair. |
| 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 |
1:4 |
| 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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