GM23899
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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Family History
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N
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Relation to Proband
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proband
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ISCN
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46,XY.arr 15q11.2(21142170-22588019)x1,15q11.2(23641501-24542221)x1,15q11.2q12(24787665-27719695)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; diagnosed at 5 days of age; symptom onset at birth; required NG tube until age 3 weeks; mild bitemporal narrowing; mild retrognathia; mild hyperopia; anteverted nose; normal genitalia: Tanner stage 1; shallow sacral dimple; single café au lait lesion; mild apnea; feeding difficulties and reflux until 6 months of age; sitting since 8 months and is walking holding on to furniture at 16 months; weight 24.8 lbs and height 33 inches (90th percentile) at 16 months; average appetite with demonstrated satiety and hunger signals; FISH karyotype: ish 15q11-13(SNRPN-), 15q22(PMLx2), 15p11.2(D15Z1x2); treatments include: Genotropin, coenzyme Q10 carnitine fumarate, creatine monohydrate, fish oil, multivitamin, B12 methylcobalamin; occupational therapy, 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 |
1:6 |
| 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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