GM23977
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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Irish, 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,XY.arr 15q11.2q13.1(23237163-28560804)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 2 weeks of age; symptom onset at birth; delivered via emergency C section at 35 weeks gestation due to intrauterine growth restriction, abnormal fetal tracing and abnormal fetal doppler; birth weight 4lbs 11 oz, height 17 inches (below 3rd percentile, corrected for gestational age); spent 70 days in NICU and required an NG tube during this time; hypotonic at birth; decreased central tone; increased peripheral tone in lower extremities; arches back and appears stiff and hypertonic when awake; severe head lag; almond shaped eyes; thin lips; bitemporal narrowing; high palate; mild hypopigmentation; undescended testes; underdeveloped, shell shaped, non-rugated scrotum; single transverse palmar crease (right) and bridged palmar crease (left); weak cry; FISH result: 46,XY.ish del (15) (q11.2 q11.2) (SNRPN-);treatments include: ear tube placement, orchiopexy; genotropin, glycerine suppository for constipation; ventilator; sleep apnea monitor; physical, occupational and speech therapy.
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| 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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