GM23354
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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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 8p23.1(7213700-8055436)x3,15q11.2(19109351-20089383)x3,15q11.2q12(20315939-25333492)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; mild hypotonia; eyes are almond shaped; flat occiput; high arched palate; left strabismus; neck is short and broad; low posterior hairline; skin is lighter than other family members; physical examination at age 30 revealed: height: 166.48 cm, 65th percentile; weight: 105.3 pounds, greater than 97th percentile; head circumference: 55cm, 21st percentile; hand length: 17.9 cm on the left, 62nd percentile; hand length: 18.5 cm on the right, 75th percentile; middle finger is 7.1 cm on the right and 7.3 cm on the left, 10-25th percentile; short fourth and fifth metacarpals; fifth finger clinodactyly; foot length is 22.8cm, below 3rd percentile; limited range of movement of the hip; right leg is longer by approximately 1.5 cm; scoliosis; lordosis; testicles are descended and small (3cc each); penile length 7cm, Tanner stage V, poorly rugated scrotum; diabetes treated with a controlled diet; gastritis; gallstones; constipation; hyperlipidemia; left hip arthritis; slow micturition; appetite has continued to increase since age 6 years; aggressive and easily angered; history of skin picking; compulsive behaviors; nail biting; bruxism; DEXA: body fat 39%, left hip T score 0.7, lumbar region -0.2; MLPA results: type 1 deletion of unknown size; treatment/medications: Humatrope (age 8-16 years); testosterone injections; fluoxetine; Benadryl, aspirin; naproxen; Gaviscon; Prilosec. |
| 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 |
1:3 |
| 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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