GM23862
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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Not Hispanic/Latino
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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,XX.arr 6q12q13(66652097-73120671)x2 hmz,6q15q16.1(90745227-98297832)x2 hmz,15q11.1q14(20071672-37583822)x2 hmz
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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 approximately age 12; symptom onset at birth; birth weight: 6 lbs. 10 oz; hypotonic at birth; in NICU for 6 weeks due to failure to thrive; difficulty feeding; gavage feeding until 6 weeks of age; bitemporal narrowing; dolichocephaly with a prominent occiput; hypotelorism; upslanting fissures; almond shaped eyes; small downturned mouth; strabismus; narrow bridge; hypernasal voice; thin upper lip with cupids bow; multiple dental caries; enamel hypoplasia; small hands with tapering fingers; short hypoplastic nails; small feet; pale skin; mild scoliosis; hypoplastic labia minora and clitoris; upper and lower limb muscle bulk decreased; excoriations on face, legs, and arms;
weight/height at age 47: 165.6lbs; 60.25 inches; 37.7% body fat; hyperphagia began around age 8-10; hoards/forages and steals food; learning difficulties requiring special education; behavioral problems; at least 3 admissions for severe psychosis; grinds teeth; picks at skin; normal FISH result; abnormal methylation analysis: paternal (unmethylated) fragment NOT detected; maternal uniparental disomy confirmed; treatments include: surgery for strabismus, psychiatric medications: Effexor XR, risperidone TB, trazodone; lives in a group home; works and manages activities of daily living with supervision.
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| 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 |
1:4 |
| 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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