GM24696
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
PIGI Consented Sample |
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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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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[hg19] 15q11.2q13.1(23459189-28709280)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 3 days old; fetal distress, delivered via Caesarean section due to decreased fetal motion and decreased oxygen; significant hypotonia - unable to walk; seizures; slight plagiocephaly; scoliosis; kyphosis; clinodactyly; short 4th metacarpal and 5th finger; dilated cardiomyopathy at age 2-3 years (resolved at age 3 years); obstructive sleep apnea; asthma; bruxism; hypoplastic scrotum; failure to thrive; speech delay; pervasive developmental delay; morbid obesity -height for age: 108 cm,~28th percentile, weight for age: 18.8 kg, ~46th percentile; BMI: 16 kg/m2,~71st percentile; Prader-Willi-positive deletion confirmed by FISH and methylation studies; medications include: Genotropin, albuterol, Keppra; assistive devices or therapy include: brace for scoliosis; walker; wheelchair; use of bipap machine at night; speech therapy; physical therapy; has behavior modification program; hospitalizations for failure to thrive, tracheomalachia and seizures; surgeries: bilateral orchiopexy (for undescended testes), tonsillectomy. |
| 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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