GM23863
LCL from B-Lymphocyte
Description:
PRADER-WILLI SYNDROME; PWS
TRANSLOCATED CHROMOSOME
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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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Asian, Other
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Ethnicity
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Indian
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Family History
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Y
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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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45,XY,-15,der(19)t(15;19)(q12;p13.3),22ps+.arr 15q11.1q12(20016315-27087592)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 with Prader-Willi syndrome resulting from an unbalanced reciprocal translocation between q arm of chromosome 15 and p arm of chromosome 19; diagnosed at 21 days of age due to hypotonia, poor feeding and mild dysmorphia; delivered at 40 weeks gestation via cesarean section due to non-reassuring fetal heart tracing; birth weight 3.13 kg (25th percentile), height 53 cm; weak cry at birth; required gastrostomy tube for feeding in infancy; dolichocephaly with flattened occiput; bitemporal narrowing; coarse, thick hair with low anterior and posterior hairline; almond shaped eyes; mild strabismus; mild hypotelorism; upslanting palpebral fissures; asymmetrical, low set, and posteriorly angulated ears; mild facial hair; small mouth with flattened short philtrum; cupid’s bow; thick, sticky saliva; widely spaced, small, narrow teeth with hypoplasia of enamel; marked prognathia; lighter skin with areas of hypopigmentation; phallus tanner stage 1; bilateral 5th finger clinodactyly; mild hypoplasia of nails, mild hypotonia; developmental delay requiring special education classes; food seeking/food hiding behaviors; compulsive behaviors; tantrums; anxiety; emotional and cries easily; skin picking; seizures from 1 to 3 years of age; lower pain threshold; decreased vomiting; karyotype result: 45,XY der(19)t (15;19)(q12;13.3); grossly normal MRI at birth: small lateral temporal horns, and small pituitary gland noted; treatments include: genotropin, methylphenydate, thyroid replacement, Biotene, growth hormone; physical, occupational, and speech therapy; family history: paternal cousin with microcephaly and seizures; maternal cousin with hypoglycemia and seizures; consanguinity denied. |
| 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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