GM23337
LCL from B-Lymphocyte
Description:
PRADER-WILLI SYNDROME; PWS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
Hispanic/Latino
|
|
Ethnicity
|
Mexican
|
|
Country of Origin
|
USA
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XY.arr 1q23.3(159780382-159938619)x3,15q11.2q13.1(20224750-26500067)x1,15q14(32269171-32507227)x3
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Clinically affected; symptom onset at birth; diagnosis at 2 years of age; decreased/nearly absent fetal movements; hypotonia at birth; round face; upslanting palpebral fissures; short, broad neck; low anterior and posterior hairline; mild acanthosis in neck folds; head tilted forward; kyphosis, scoliosis to lower thoracic and upper lumbar spine with convexity to the left, 20 degree curvature; lumbar lordosis; short stature; reduced muscle bulk; muscle weakness; short fourth and fifth metacarpals; fifth finger clinodactyly; small hands and feet; leg length discrepancy secondary to genu valgus deformity at the left knee; diminished reflexes; shallow sacral dimple; seasonal asthma onset age 2 years; chronic serous otitis; heartburn; right cryptorchidism; obesity onset 6 years of age; arthritis; sticky, dry saliva; sparse axillary hair; tanner stage III; poorly rugated scrotum; skin lesions secondary to skin picking, particularly on limbs; 4 café au laits lesions; developmental milestones include: smiled before age 1, did not reach for objects until 2, sat at 3-4 years, crawled at 3-4 years, stood independently at 4-5 years, walked at 4-5 years, toilet trained 5-6 years, ran at 6 years, able to says words by 7 years, and 2-word sentences at 11-12 years of age; behavioral problems include: screaming/yelling, throwing objects, foul language, anxiety, aggression, food seeking and hoarding behaviors; sleep study revealed abnormal upper airway resistance syndrome events; mild obstructive sleep apnea (onset 2 years of age); DNA methylation followed by Southern blot analysis (XbaI/NotI hybridized with exon alpha probe) revealed that the paternal band is absent at SNRPN gene; medications include: Norditropin and human chorionic gonadotropin; surgeries include: adenoidectomy, bilateral myringotomy and tube placement at age 11 years; therapies include: attends behavioral program in school starting in grade 10, physical therapy ages 2-4 years, occupational therapy up to age 4; assistive devices: brace for scoliosis for 6 months. |
| 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 |
- |
|
|