GM24341
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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Not Reported
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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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Karyotypic analysis before cell line submission to CCR
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ISCN
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46,XY,del(15)(q11.2q13)[17]/46,XY,t(2;14)(?p11.2;?q32),del(15)(q11.2q12)[8].arr[hg19] 15q11.2q13.1(22673386-28919772)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; symptom onset at birth; diagnosed at 1 month; decreased fetal movement in utero; hypotonia; hypospadias; speech delay; delayed bone maturation; cryptorchidism; FISH positive for a deletion in the SNRPN gene: ish del(15)(q11.2q12)(SNRPN-); medications include: growth hormone; treatments include: occupational and speech therapy; surgery for cryptorchidism. |
| 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 |
- |
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