GM24065
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
|
|
Country of Origin
|
USA
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis before cell line submission to CCR
|
|
ISCN
|
46,XX.arr 15q11.2q13.1(23641501-28560804)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Subject is clinically affected; diagnosed at 1 month old; pregnancy complicated with increased vomiting and gestational diabetes; unable to suck at birth; obstructive sleep apnea; hypotonic-did not move or cry for 8 months; overgrowth and morbid obesity (BMI 33.9); feet are very small and rotate out laterally;genu valgum; small hands; mild hearing loss on left side; keratosis pilaris on arms; Tanner 1-pubic hair/breast development; developmental delay; sat up at 14 months and began crawling at 28 months; able to sit on a scooter but does not walk independently; temper tantrums when food is denied; speech limited to jargon; FISH result: 46,XX, del(15)(q11.2q11.2)ish del(15)(SNRPN-,D15S10-); treatments include: Flonase; tonsillectomy; CPAP at night; ankle-foot orthotics. |
| Goh CJ, Kwon HJ, Kim Y, Jung S, Park J, Lee IK, Park BR, Kim MJ, Kim MJ, Lee MS, Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach Diagnostics (Basel, Switzerland)14: 2023 |
| PubMed ID: 38201393 |
| 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 |
- |
|
|