GM23466
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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Hispanic/Latino
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Ethnicity
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Hispanic/Latino
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Ethnicity
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MEXICAN
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Country of Origin
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USA
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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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Clinical summary/Case history
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ISCN
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46,XX.arr 7q35(143558727-143734848)x1,15q11.2(18664855-20089383)x3,15q11.2q13.1(21192942-26234399)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; obstructive sleep apnea, noted features include: round face, bitemporal narrowing, almond-shaped eyes that are upslanting, mild epicanthal folds, hair is hypopigmented, neck is short and broad with a slight low anterior and posterior hairline, head is tilted forward on neck, increased muscle bulk and lordosis of the spine. Receives occupational, physical and speech therapy. |
| 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 |
1:5 |
| 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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